A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism

DNA sequencing with chain-terminating inhibitors

Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572 · see citing works

Detection of specific sequences among DNA fragments separated by gel electrophoresis

Southern, E. M. (1975) · Journal of Molecular Biology · doi:10.1016/s0022-2836(75)80083-0 · Cited by 32,245 · see citing works

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

Saiki, R. K., Gelfand, D. H., Stoffel, S., Scharf, S. J., Higuchi, R., Horn, G. T., Mullis, K. B., & Erlich, H. A. (1988) · Science · doi:10.1126/science.2448875 · Cited by 17,719 · see citing works

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Ott, J. (1974) · PubMed · Cited by 1,028 · see citing works

BIOCHEMISTRY OF MELANIN FORMATION

Lerner, A. B., & Fitzpatrick, T. B. (1950) · Physiological Reviews · doi:10.1152/physrev.1950.30.1.91 · Cited by 630 · see citing works

Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.

Kwon, B. S., Haq, A. K., Pomerantz, S. H., & Halaban, R. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.21.7473 · Cited by 438 · see citing works

Functional analysis of alternatively spliced tyrosinase gene transcripts.

Müller, G., Ruppert, S., Schmid, E., & Schütz, G. (1988) · The EMBO Journal · doi:10.1002/j.1460-2075.1988.tb03126.x · Cited by 271 · see citing works

Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene

Tomita, Y., Takeda, A., Okinaga, S., Tagami, H., & Shibahara, S. (1989) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(89)91767-1 · Cited by 207 · see citing works

Multiple transcripts of the mouse tyrosinase gene are generated by alternative splicing.

Ruppert, S., Müller, G., Kwon, B. S., & Schütz, G. (1988) · The EMBO Journal · doi:10.1002/j.1460-2075.1988.tb03125.x · Cited by 181 · see citing works

Particulate Tyrosinase of Human Malignant Melanoma

NISHIOKA, K. (1978) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1978.tb12221.x · Cited by 118 · see citing works

Tyrosinase activity and abundance in Cloudman melanoma cells

Halaban, R., Pomerantz, S. H., Marshall, S., & Lerner, A. B. (1984) · Archives of Biochemistry and Biophysics · doi:10.1016/0003-9861(84)90121-8 · Cited by 107 · see citing works

Molecular basis for the heterogeneity of human tyrosinase.

Shibahara, S., Tomita, Y., Tagami, H., Müller, R., & Cohen, T. (1988) · The Tohoku Journal of Experimental Medicine · doi:10.1620/tjem.156.403 · Cited by 98 · see citing works

Hairbulb tyrosinase activity in oculocutaneous albinism: Suggestions for pathway control and block location

King, R. A., Olds, D. P., Opitz, J. M., & Reynolds, J. F. (1985) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320200108 · Cited by 62 · see citing works

Albinism.

King, R. A., & Summers, C. G. (1988) · PubMed · Cited by 32 · see citing works

Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism.

Hu, F., Hanifin, J. M., Prescott, G. H., & Tongue, A. C. (1980) · PubMed · Cited by 31 · see citing works

RFLP for TaqI at the human tyrosinase locus

Spritz, R. A., Strunk, K. M., Oetting, W. S., & King, R. A. (1988) · Nucleic Acids Research · doi:10.1093/nar/16.20.9890 · Cited by 18 · see citing works

Enzymatic control of pigmentation in mammals

Hearing, V. J., & Tsukamoto, K. (1991) · The FASEB Journal · doi:10.1096/fasebj.5.14.1752358 · Cited by 754 · see citing works

The Color Loci of Mice – A Genetic Century

Bennett, D. C., & Lamoreux, M. L. (2003) · Pigment Cell Research · doi:10.1034/j.1600-0749.2003.00067.x · Cited by 486 · see citing works

Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism

Oetting, W. S., & King, R. A. (1999) · Human Mutation · doi:10.1002/(sici)1098-1004(1999)13:2 · Cited by 349 · see citing works

A second tyrosinase‐related protein, TRP‐2, maps to and is mutated at the mouse slaty locus.

Jackson, I. J., Chambers, D. M., Tsukamoto, K., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., & Hearing, V. (1992) · The EMBO Journal · doi:10.1002/j.1460-2075.1992.tb05083.x · Cited by 316 · see citing works

A Genomewide Association Study of Skin Pigmentation in a South Asian Population

Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522235 · Cited by 315 · see citing works

Role of Tyrosinase as the Determinant of Pigmentation in Cultured Human Melanocytes

Iozumi, K., Hoganson, G. E., Pennella, R., Everett, M. A., & Fuller, B. B. (1993) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12476630 · Cited by 267 · see citing works

Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment

Giebel, L. B., Strunk, K. M., & Spritz, R. A. (1991) · Genomics · doi:10.1016/0888-7543(91)90409-8 · Cited by 179 · see citing works

Mutational mapping of the catalytic activities of human tyrosinase.

Tripathi, R. K., Hearing, V. J., Urabe, K., Aroca, P., & Spritz, R. A. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)35895-2 · Cited by 141 · see citing works

Molecular Basis of Congenital Hypopigmentary Disorders in Humans: A Review

Boissy, R. E., & Nordlund, J. J. (1997) · Pigment Cell Research · doi:10.1111/j.1600-0749.1997.tb00461.x · Cited by 127 · see citing works

Genetic Disorders of Pigmentation

Spritz, R. A., & Hearing, V. J. (1994) · Springer eBooks · doi:10.1007/978-1-4757-9062-7_1 · Cited by 98 · see citing works

A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

Giebel, L. B., Tripathi, R. K., King, R. A., & Spritz, R. A. (1991) · Journal of Clinical Investigation · doi:10.1172/jci115075 · Cited by 98 · see citing works

Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

Giebel, L. B., Tripathi, R. K., Strunk, K. M., Hanifin, J. M., Jackson, C. E., King, R. A., & Spritz, R. A. (1991) · Europe PMC (PubMed Central) · Cited by 92 · see citing works

Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.

King, R. A., Townsend, D., Oetting, W. S., Summers, C. G., Olds, D., White, J. G., & Spritz, R. A. (1991) · Journal of Clinical Investigation · doi:10.1172/jci115064 · Cited by 86 · see citing works

Tyrosinase gene mutations in type I (tyrosinase‐deficient) oculocutaneous albinism define two clusters of missense substitutions

Tripathi, R. K., Strunk, K. M., Giebel, L. B., Weleber, R. G., & Spritz, R. A. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320430523 · Cited by 82 · see citing works

The tyrosinase-related protein-1 gene has a structure and promoter sequence very different from tyrosinase

Jackson, I. J., Chambers, D. M., Budd, P. S., & Johnson, R. S. (1991) · Nucleic Acids Research · doi:10.1093/nar/19.14.3799 · Cited by 82 · see citing works

A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity.

Tripathi, R. K., Giebel, L. B., Strunk, K. M., & Spritz, R. A. (1991) · Europe PMC (PubMed Central) · Cited by 74 · see citing works

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population

Passmore, L. A., Käsmann‐Kellner, B., & Weber, B. H. F. (1999) · Human Genetics · doi:10.1007/s004390051090 · Cited by 71 · see citing works

Molecular basis of type I (tryrosinase-related) oculocutaneous albinism: Mutations and polymorphisms of the human tyrosinase gene

Oetting, W. S., & King, R. A. (1993) · Human Mutation · doi:10.1002/humu.1380020102 · Cited by 70 · see citing works

Molecular Basis of Oculocutaneous Albinism

Oetting, W. S., & King, R. A. (1994) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12399447 · Cited by 62 · see citing works

Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism

Oetting, W. S., & King, R. (1992) · Human Genetics · doi:10.1007/bf00220074 · Cited by 57 · see citing works

White Mutants in Mice Shedding Light on Humans

Halaban, R., & Moellmann, G. E. (1993) · Journal of Investigative Dermatology · doi:10.1038/jid.1993.73 · Cited by 55 · see citing works

Transglutaminase-1 and Bathing Suit Ichthyosis: Molecular Analysis of Gene/Environment Interactions

Aufenvenne, K., Oji, V., Walker, T., Becker‐Pauly, C., Hennies, H. C., Stöcker, W., & Traupe, H. (2009) · Journal of Investigative Dermatology · doi:10.1038/jid.2009.18 · Cited by 48 · see citing works

A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

Chintamaneni, C. D., Halaban, R., Kobayashi, Y. M., Witkop, C. J., & Kwon, B. S. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.12.5272 · Cited by 47 · see citing works

Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.

Spritz, R. A., Strunk, K. M., Hsieh, C., Sekhon, G. S., & Francke, U. (1991) · PubMed · Cited by 43 · see citing works

1-(2,4-Dihydroxyphenyl)-3-(2,4-dimethoxy-3-methylphenyl)propane, a Novel Tyrosinase Inhibitor with Strong Depigmenting Effects

Nesterov, A., Zhao, J., Minter, D. E., Hertel, C., Ma, W., Abeysinghe, P., Hong, M., & Jia, Q. (2008) · Chemical and Pharmaceutical Bulletin · doi:10.1248/cpb.56.1292 · Cited by 41 · see citing works

A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.

Giebel, L. B., Musarella, M. A., & Spritz, R. A. (1991) · Journal of Medical Genetics · doi:10.1136/jmg.28.7.464 · Cited by 41 · see citing works

From Gene to Protein: Determination of Melanin Synthesis

Urabe, K., Aroca, P., & Hearing, V. J. (1993) · Pigment Cell Research · doi:10.1111/j.1600-0749.1993.tb00601.x · Cited by 37 · see citing works

Molecular Analysis of an Extended Family with Type IA (Tyrosinase-Negative) Oculocutaneous Albinism

Oetting, W. S., Mentink, M. M., Paller, A. S., White, J. G., King, R. A., & Handoko, H. Y. (1991) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12477808 · Cited by 36 · see citing works

The Molecular Genetics of Albinism and Piebaldism

Tomita, Y. (1994) · Archives of Dermatology · doi:10.1001/archderm.130.3.355 · Cited by 34 · see citing works

A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.

Oetting, W. S., Witkop, C. J., Brown, S. A., Colomer, R., Fryer, J. P., Bloom, K. E., & King, R. A. (1993) · PubMed · Cited by 34 · see citing works

Derivation of marker gene signatures from human skin and their use in the interpretation of the transcriptional changes associated with dermatological disorders

Shih, B. B.-J., Nirmal, A. J., Headon, D. J., Akbar, A. N., Mabbott, N. A., & Freeman, T. C. (2016) · The Journal of Pathology · doi:10.1002/path.4864 · Cited by 32 · see citing works

Selective disaggregation of the H+-translocating ATPase. Isolation of two discrete complexes of the rutamycin-insensitive ATPase differing in mitochondrial membrane-binding properties.

Fisher, R. J., Liang, A., & Sundstrom, G. C. (1981) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)70032-5 · Cited by 30 · see citing works

Functional validation of the albinism-associated tyrosinase T373K SNP by CRISPR/Cas9-mediated homology-directed repair (HDR) in rabbits

Song, Y., Zhang, Y., Chen, M., Deng, J., Sui, T., Lai, L., & Li, Z. (2018) · EBioMedicine · doi:10.1016/j.ebiom.2018.09.041 · Cited by 29 · see citing works

Determination of variants in the 3′-region of the Tyrosinase gene requires locus specific amplification

Chaki, M., Mukhopadhyay, A., & Ray, K. (2005) · Human Mutation · doi:10.1002/humu.20171 · Cited by 28 · see citing works

Albinism Due to Transposable Element Insertion in Fish

Koga, A., & HORI, H. (1997) · Pigment Cell Research · doi:10.1111/j.1600-0749.1997.tb00695.x · Cited by 28 · see citing works

Human Albinism and Mouse Models

King, R. A., Jackson, I. J., & Oetting, W. S. (1994) · CRC Press eBooks · doi:10.1201/b14734-5 · Cited by 25 · see citing works

Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons

Oetting, W. S., Fryer, J. P., Oofuji, Y., Middendorf, L. R., Brumbaugh, J. A., Summers, C. G., & King, R. A. (1994) · Electrophoresis · doi:10.1002/elps.1150150127 · Cited by 24 · see citing works

Oculocutaneous Albinism in the i6 Mutant of the Medaka Fish is Associated with a Deletion in the Tyrosinase Gene

Koga, A., Wakamatsu, Y., KUROSAWA, J., & Hori, H. (1999) · Pigment Cell Research · doi:10.1111/j.1600-0749.1999.tb00758.x · Cited by 23 · see citing works

Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

Nathan, V., Johansson, P. A., Palmer, J. M., Howlie, M., Hamilton, H. R., Wadt, K., Jönsson, G. B., Brooks, K. M., Pritchard, A. L., & Hayward, N. K. (2019) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12804 · Cited by 22 · see citing works

Comprehensive Review of the Genetics of Albinism

Jauregui, R., Huryn, L. A., & Brooks, B. P. (2018) · Journal of Visual Impairment & Blindness · doi:10.1177/0145482x1811200604 · Cited by 21 · see citing works

Tyrosinase Gene Mutations Causing Oculocutaneous Albinisms

Tomita, Y. (1993) · Journal of Investigative Dermatology · doi:10.1038/jid.1993.74 · Cited by 21 · see citing works

Analysis of Mutations in the Copper B Binding Region Associated With Type I (Tyrosinase‐Related) Oculocutaneous Albinism

Oetting, W. S., & King, R. A. (1992) · Pigment Cell Research · doi:10.1111/j.1600-0749.1992.tb00549.x · Cited by 21 · see citing works

Oculocutaneous Albinism: Variable Expressivity of Nystagmus in a Sibship

Cheong, P. Y. Y., King, R. A., & Bateman, J. B. (1992) · Journal of Pediatric Ophthalmology & Strabismus · doi:10.3928/0191-3913-19920501-14 · Cited by 19 · see citing works

The Genetics of Human Pigmentary Disorders

Rees, J. L. (2011) · Journal of Investigative Dermatology · doi:10.1038/skinbio.2011.5 · Cited by 18 · see citing works

Transcription profiling using RNA-Seq demonstrates expression differences in the body walls of juvenile albino and normal sea cucumbers Apostichopus japonicus

Ma, D., Yang, H., Sun, L., & Chen, M. (2014) · Chinese Journal of Oceanology and Limnology · doi:10.1007/s00343-014-3041-6 · Cited by 17 · see citing works

Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

Preising, M. N., Forster, H., Tan, H., Lorenz, B., de Jong, P. T. V. M., & Plomp, A. S. (2007) · PubMed · Cited by 15 · see citing works

Comparative analysis of transcriptomes from albino and control sea cucumbers, Apostichopus japonicus

Ma, D., Yang, H., Sun, L., & Xu, D. (2014) · Acta Oceanologica Sinica · doi:10.1007/s13131-014-0464-z · Cited by 13 · see citing works

Extracutaneous Melanocytes

Boissy, R. E., & Hornyak, T. J. (2006) · Wiley eBooks · doi:10.1002/9780470987100.ch4 · Cited by 12 · see citing works

Recent Advances in the Molecular Biology of Pigmentation: Mouse Models

Halaban, R., & Moellmann, G. E. (1990) · Pigment Cell Research · doi:10.1111/j.1600-0749.1990.tb00352.x · Cited by 11 · see citing works

Mutations of the Tyrosinase Gene in Oculocutaneous Albinism

Shibahara, S. (1992) · Pigment Cell Research · doi:10.1111/j.1600-0749.1992.tb00550.x · Cited by 9 · see citing works

The Molecular Basis of Type I (Tyrosinase‐Deficient) Human Oculocutaneous Albinism

Giebel, L. B., & Spritz, R. A. (1990) · Pigment Cell Research · doi:10.1111/j.1600-0749.1990.tb00357.x · Cited by 9 · see citing works

Melanoma and Melanocytes: Pigmentation, Tumor Progression, and the Immune Response to Cancer

Setaluri, V., & Houghton, A. N. (1995) · Advances in pharmacology · doi:10.1016/s1054-3589(08)61017-0 · Cited by 9 · see citing works

A unique system that can sensitively assess the risk of chemical leukoderma by using murine tail skin

Iida, M., Tazaki, A., Deng, Y., Chen, W., Yajima, I., Kondo‐Ida, L., Hashimoto, K., Ohgami, N., & Kato, M. (2019) · Chemosphere · doi:10.1016/j.chemosphere.2019.06.185 · Cited by 8 · see citing works

Comprehensive Transcriptome Analysis of Different Skin Colors to Evaluate Genes Related to the Production of Pigment in Celestial Goldfish

Li, R., Sun, Y., Cui, R., & Zhang, X. (2022) · Biology · doi:10.3390/biology12010007 · Cited by 6 · see citing works

Genetic Hypomelanoses: Generalized Hypopigmentation

King, R. A., Oetting, W. S., Bahadoran, P., Ortonne, J. P., Gadenne, A. S., Nordlund, J. J., Titsch, M. D., Mineroff, A. D., Bolognia, J. L., & Ploysangam, T. (2006) · Wiley eBooks · doi:10.1002/9780470987100.ch31 · Cited by 6 · see citing works

Molecular Basis of Type IA (Tyrosinase Negative) Oculocutaneous Albinism

King, R. A., & Oetting, W. S. (1990) · Pigment Cell Research · doi:10.1111/j.1600-0749.1990.tb00380.x · Cited by 6 · see citing works

Genes

Wahłsten, D. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-812832-9.00002-6 · Cited by 5 · see citing works

Molecular Structure of the Tyrosinase Gene

Takeuchi, T. (1990) · Pigment Cell Research · doi:10.1111/j.1600-0749.1990.tb00351.x · Cited by 5 · see citing works

Molecular Bases of Tyrosinase‐Negative Oculocutaneous Albinism: A Single Base Insertion or a Missense Point Mutation in the Tyrosinase Gene

Tomita, Y., Takeda, A., Matsunaga, J., Okinaga, S., Shibahara, S., & Tagami, H. (1990) · Pigment Cell Research · doi:10.1111/j.1600-0749.1990.tb00356.x · Cited by 5 · see citing works

The Tyrosinase Gene Family

Oetting, W. S., & Setaluri, V. (2006) · Wiley eBooks · doi:10.1002/9780470987100.ch11 · Cited by 4 · see citing works

Tyrosinase Gene Mutations Causing Oculocutaneous Albinisms.

Tomita, Y. (1993) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12465155 · Cited by 4 · see citing works

Albinism: Ocular and Oculocutaneous Albinism and Hermansky‐Pudlak Syndrome

King, R. A., & Summers, C. G. (2010) · Wiley eBooks · doi:10.1002/9780470893159.ch5 · Cited by 4 · see citing works

Cloning and sequence analysis of the tyrosinase gene from a patient with tyrosinase-positive oculocutaneous albinism

Matsunaga, J., Takeda, A., Tomita, Y., Hara, M., Shibahara, S., & Tagami, H. (1992) · Journal of Dermatological Science · doi:10.1016/0923-1811(92)90033-8 · Cited by 3 · see citing works

Molecular Diagnosis of Genodermatoses

Wessagowit, V. (2012) · Methods in molecular biology · doi:10.1007/978-1-62703-227-8_3 · Cited by 2 · see citing works

ALBINISM

Summers, C. G., & Adams, D. R. (2020) · Wiley eBooks · doi:10.1002/9781119432692.ch4 · Cited by 2 · see citing works

Making the invisible visible

Steensel, M. A. M. V. (2016) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2016.02.013 · Cited by 1 · see citing works

A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene: reply from authors

Suzuki, T., & Tomita, Y. (2005) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2005.06913.x · Cited by 1 · see citing works

Albinism and H ermansky‐ P udlak Syndrome

King, R. A., & Summers, C. G. (2005) · Wiley eBooks · doi:10.1002/0471695998.mgs005 · Cited by 1 · see citing works

Genomics of Skin Disorders

Young, A. E., White, S. D., & Bannasvch, D. L. (2013) · Wiley eBooks · doi:10.1002/9781118522158.ch10

Long- and short-term effects of vitamin E administration along with stress on skin tissues of mice

Lee, S. J., Ko, M. S., Yang, Y., & Kang, S. (2012) · Journal of the Korean Society for Applied Biological Chemistry · doi:10.1007/s13765-012-0018-z

Molecular Basis of Genetic Disorders of Pigmentation in Humans and Mice

Spritz, R. A. (1996) · Springer eBooks · doi:10.1007/978-3-642-61122-3_10

References

(1993) · Elsevier eBooks · doi:10.1016/b978-0-08-092480-9.50015-0

REFERENCES

(1992) · Elsevier eBooks · doi:10.1016/b978-0-12-565970-3.50017-0

Psicossociologia da saúde e comunidades: cartografias do cuidado

Slomp, H., Gomes, M. P. C., dos Santos, N. L. P., da Cruz, K. T., Merhy, E. E., & Moreira, R. (2024) · doi:10.18310/9786554621427

Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.

Spritz, R. A., Strunk, K. M., Hsieh, C., Sekhon, G. S., & Francke, U. (1991) · PubMed · Cited by 43 · see citing works

A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.

Giebel, L. B., Musarella, M. A., & Spritz, R. A. (1991) · Journal of Medical Genetics · doi:10.1136/jmg.28.7.464 · Cited by 41 · see citing works

Mutation analysis of the tyrosinase gene in oculocutaneous albinism

Camand, O., Marchant, D., Boutboul, S., Péquignot, M. O., Odent, S., Dollfus, H., Sutherland, J. E., Levin, A. V., Ménasche, M., Marsac, C., et al. (2001) · Human Mutation · doi:10.1002/humu.38 · Cited by 18 · see citing works

R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism

Matsunaga, J., Dakeishi, M., Shimizu, H., & Tomita, Y. (1996) · Journal of Dermatological Science · doi:10.1016/s0923-1811(96)00519-1 · Cited by 7 · see citing works

Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

Giebel, L. B., Tripathi, R. K., Strunk, K. M., Hanifin, J. M., Jackson, C. E., King, R. A., & Spritz, R. A. (1991) · Europe PMC (PubMed Central) · Cited by 92 · see citing works