Cited by 833Neutrophil, Myeloperoxidase and Oxidative MechanismsImmunodeficiency and Autoimmune DisordersBlood disorders and treatments

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Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location

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Royer-Pokora, Brigitte, Kunkel, Louis M., Monaco, Anthony P., Goff, Sabra C., Newburger, Peter E., Baehner, Robert L., Cole, F. Sessions, Curnutte, John T., Orkin, Stuart H.·1986·Nature

DOI 10.1038/322032a0

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Abstract

The gene that is abnormal in the X-linked form of the phagocytic disorder chronic granulomatous disease has been cloned without reference to a specific protein by relying on its chromosomal map position. The transcript of the gene is expressed in the phagocytic lineage of haematopoietic cells and is absent or structurally abnormal in four patients with the disorder. The nucleotide sequence of complementary DNA clones predicts a polypeptide of at least 468 amino acids with no homology to proteins described previously.

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Molecular Cloning: A Laboratory Manual
Sambrook, J., Fritsch, E., & Maniatis, T. (1989) · UCLA - Biblioteca de Ciencias de la Salud · Cited by 133,589
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
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
Molecular Cloning. A Laboratory Manual
Wood, E. (1983) · Biochemical Education · doi:10.1016/0307-4412(83)90068-7 · Cited by 29,534
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
Feinberg, A. P., & Vogelstein, B. (1983) · Analytical Biochemistry · doi:10.1016/0003-2697(83)90418-9 · Cited by 24,512
Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
Chirgwin, J. M., Przybyla, A., MacDonald, R. J., & Rutter, W. J. (1979) · Biochemistry · doi:10.1021/bi00591a005 · Cited by 21,460
[57] Sequencing end-labeled DNA with base-specific chemical cleavages
Maxam, A. M., & Gilbert, W. (1980) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(80)65059-9 · Cited by 13,943
Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
Botstein, D., White, R. L., Skolnick, M. H., & Davis, R. W. (1980) · Europe PMC (PubMed Central) · Cited by 8,327
Efficient in vitro synthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter
Melton, D. A., Krieg, P. A., Rebagliati, M. R., Maniatis, T., Zinn, K., & Green, M. R. (1984) · Nucleic Acids Research · doi:10.1093/nar/12.18.7035 · Cited by 6,324
[2] New M13 vectors for cloning
Messing, J. W. (1983) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(83)01005-8 · Cited by 5,240

Flagged first, then by citations

Show all 43 references

Research works printed but not linked: 2

Botstein, D., White, R. L., Skolnick, M. & Davis, R. W. Am. J. hum. Genet. 32, 314–331 (1980).
Francke, U. et al. Am. J. hum. Genet. 37, 250–267 (1985).

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Rodaway, A., Teahan, C. G., Casimir, C. M., Segal, A. W., & Bentley, D. L. (1990) · Molecular and Cellular Biology · doi:10.1128/mcb.10.10.5388-5396.1990 · Cited by 93
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Caldwell, S. E., McCall, C. E., Hendricks, C. L., Leone, P. A., Bass, D., & McPhail, L. C. (1988) · Journal of Clinical Investigation · doi:10.1172/jci113480 · Cited by 97
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Sequences of the 5′ portion of the humanc-sisgene: characterization of the transcriptional promoter and regulation of expression of the protein product by 5' untranslated mRNA sequences
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Nussbaum, R. L., Lesko, J. G., Lewis, R. A., Ledbetter, S. A., & Ledbetter, D. H. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.18.6521 · Cited by 86
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Leusen, J. H. W., de Klein, A., Hilarius, P. M., Åhlin, A., Palmblad, J. E. W., Smith, C. I., Diekmann, D., Hall, A., Verhoeven, A. J., & Roos, D. (1996) · The Journal of Experimental Medicine · doi:10.1084/jem.184.4.1243 · Cited by 83
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Ehleben, W., Porwol, T., Fandrey, J., Kummer, W., & Acker, H. (1997) · Kidney International · doi:10.1038/ki.1997.67 · Cited by 83
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Youngson, C., Nurse, C. A., Yeger, H., Curnutte, J. T., Vollmer, C., Wong, V. S. C., & Cutz, E. (1997) · Microscopy Research and Technique · doi:10.1002/(sici)1097-0029(19970401)37:1 · Cited by 79
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Boado, R. J., Pardridge, W. M., Vinters, H. V., & Black, K. L. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.19.9044 · Cited by 78
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Zhan, S., Vazquez, N., Zhan, S., Wientjes, F. B., Budarf, M., Schröck, E., Ried, T., Green, E., & Chanock, S. J. (1996) · Blood · doi:10.1182/blood.v88.7.2714.bloodjournal8872714 · Cited by 77
Post-transcriptional regulation of glutathione peroxidase gene expression by selenium in the HL-60 human myeloid cell line
Chada, S., Whitney, C., & Newburger, P. E. (1989) · Blood · doi:10.1182/blood.v74.7.2535.2535 · Cited by 79
Self-citation
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Rommens, J. M., Zengerling, S., Burns, J. E., Melmer, G., Kerem, B., Plavsic, N., Zsiga, M., Kennedy, D., Markiewicz, D., & Rozmahel, R. F. (1988) · Europe PMC (PubMed Central) · Cited by 76
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Cassatella, M. A., Hartman, L., PERUSSIA, B., & Trinchieri, G. (1989) · Journal of Clinical Investigation · doi:10.1172/jci114054 · Cited by 75
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Self-citation
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Roos, D. (1996) · Frontiers in bioscience · doi:10.2741/a117 · Cited by 76
Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1).
Francke, U., Hsieh, C., Foellmer, B. E., Lomax, K. J., Malech, H. L., & Leto, T. L. (1990) · PubMed · Cited by 75
Respiratory Burst Oxidase Homologue A of barley contributes to penetration by the powdery mildew fungus Blumeria graminis f. sp. hordei
Trujillo, M., Altschmied, L., Schweizer, P., Kogel, K. ‐., & Hückelhoven, R. (2006) · Journal of Experimental Botany · doi:10.1093/jxb/erl191 · Cited by 74
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Nicu, E. A., & Loos, B. G. (2016) · Periodontology 2000 · doi:10.1111/prd.12113 · Cited by 106
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Hua, J., Hasebe, T., Someya, A., Nakamura, S., Sugimoto, K., & Nagaoka, I. (2000) · Journal of Leukocyte Biology · doi:10.1189/jlb.68.2.216 · Cited by 74
CD34+ peripheral blood progenitors as a target for genetic correction of the two flavocytochrome b558 defective forms of chronic granulomatous disease
Li, F., Linton, G. F., Sekhsaria, S., Whiting‐Theobald, N., Katkin, J., Gallin, J. I., & Malech, H. L. (1994) · Blood · doi:10.1182/blood.v84.1.53.53 · Cited by 75
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O'Connell, P., Viskochil, D. H., Buchberg, A. M., Fountain, J. W., Cawthon, R., Culver, M., Stevens, J., Rich, D. C., Ledbetter, D. H., Wallace, M. R., et al. (1990) · Genomics · doi:10.1016/0888-7543(90)90198-4 · Cited by 74
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Tyler‐Smith, C., & Krausz, C. G. (2009) · New England Journal of Medicine · doi:10.1056/nejme0900301 · Cited by 74
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山内, 明., Yu, L., Pötgens, A. J. G., Kuribayashi, F., Nunoi, H., Kanegasaki, S., Roos, D., Malech, H. L., Dinauer, M. C., & Nakamura, M. (2001) · Microbiology and Immunology · doi:10.1111/j.1348-0421.2001.tb02614.x · Cited by 75
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Parkos, C. A., Allen, R. A., Cochrane, C. G., & Jesaitis, A. J. (1988) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/0005-2728(88)90140-5 · Cited by 73
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Barker, D. F., Green, P., Knowlton, R. G., Schumm, J. W., Lander, E. S., Oliphant, A., Willard, H. F., Akots, G., Brown, V., & Gravius, T. C. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.22.8006 · Cited by 73
Classification of Chronic Granulomatous Disease
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Self-citation
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Rungelrath, V., Kobayashi, S. D., & DeLeo, F. R. (2020) · WIREs Systems Biology and Medicine · doi:10.1002/wsbm.1458 · Cited by 72
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Kumatori, A., Yang, D., Suzuki, S., & Nakamura, M. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m109803200 · Cited by 72
Interferon-gamma inhibits interleukin-8 production by human polymorphonuclear leucocytes.
Cassatella, M. A., Guasparri, I., Ceska, M., Bazzoni, F., & Rossi, F. (1993) · PubMed Central · Cited by 72
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Burritt, J. B., DeLeo, F. R., McDonald, C., Prigge, J. R., Dinauer, M. C., Nakamura, M., Nauseef, W. M., & Jesaitis, A. J. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m006236200 · Cited by 73
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Weleber, R. G. (1989) · Archives of Ophthalmology · doi:10.1001/archopht.1989.01070020236032 · Cited by 72
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Rheumatologic and autoimmune manifestations of primary immunodeficiency disorders
Goyal, R., Bulua, A. C., Nikolov, N. P., Schwartzberg, P. L., & Siegel, R. M. (2008) · Current Opinion in Rheumatology · doi:10.1097/bor.0b013e32831cb939 · Cited by 72
Interferon Regulatory Factor-2 Directs Transcription from the gp91 Promoter
Luo, W., & Skalnik, D. G. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.38.23445 · Cited by 67
Immunology Taught by Human GeneticsPreprint
Casanova, J., Abel, L., & Quintana‐Murci, L. (2013) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2013.78.019968 · Cited by 77
NADPH oxidase inhibitors: a patent review
Kim, J., Neupane, G. P., Lee, E. S., Jeong, B., Park, B. C., & Thapa, P. (2011) · Expert Opinion on Therapeutic Patents · doi:10.1517/13543776.2011.584870 · Cited by 70
HOXA9 Activates Transcription of the Gene Encoding gp91 during Myeloid Differentiation
Bei, L., Lu, Y., & Eklund, E. A. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m408138200 · Cited by 69
Evidence for a readily dissociable complex of p47phox and p67phox in cytosol of unstimulated human neutrophils.
Iyer, S. S., Pearson, D. W., Nauseef, W. M., & Clark, R. A. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)31804-5 · Cited by 69
Upregulation of Vascular NAD(P)H Oxidase Subunit gp91phox and Impairment of the Nitric Oxide Signal Transduction Pathway in Hypertension
Morawietz, H., Weber, M., Rueckschloss, U., Lauer, N., Hacker, A., & Kojda, G. (2001) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2001.5312 · Cited by 69
The respiratory burst oxidase of human neutrophils. Guanine nucleotides and arachidonate regulate the assembly of a multicomponent complex in a semirecombinant cell-free system.
Uhlinger, D. J., Tyagi, S. R., Inge, K. L., & Lambeth, J. D. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)52920-3 · Cited by 69
Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17.
Fountain, J. W., Wallace, M. R., Am, B., O'Connell, P., White, R. L., Rich, D. C., Ledbetter, D. H., Leach, R. J., Re, F., & Menon, A. G. (1989) · PubMed · Cited by 68
Evidence That the Product of the Human X-Linked Cgd Gene, Gp91-phox, Is a Voltage-Gated H+ Pathway
HENDERSON, L. M., & Meech, R. W. (1999) · The Journal of General Physiology · doi:10.1085/jgp.114.6.771 · Cited by 67
Molecular cloning and nucleotide sequence of cDNAs encoding the alpha-subunit of human electron transfer flavoprotein.
Finocchiaro, G., Ito, M., Ikeda, Y., & Tanaka, K. (1988) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)37655-0 · Cited by 67
Genetic and molecular analysis of chlorambucil-induced germ-line mutations in the mouse.
Rinchik, E. M., Bangham, J. W., Hunsicker, P. R., Cacheiro, N. L. A., Kwon, B. S., Jackson, I. J., & Russell, L. B. (1990) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.87.4.1416 · Cited by 67
Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558.
Newburger, P. E., Skalnik, D. G., Hopkins, P. J., Eklund, E. A., & Curnutte, J. T. (1994) · Journal of Clinical Investigation · doi:10.1172/jci117437 · Cited by 66
Self-citation
Genetic approaches in the study of periodontal diseases
Sofaer, J. A. (1990) · Journal Of Clinical Periodontology · doi:10.1111/j.1600-051x.1990.tb02337.x · Cited by 66
X-CGDbase: a database of X-CGD-causing mutations
Roosl, D., Curnutte, J. T., Hossle, J. P., Lau, Y., Ariga, T., Nunoi, H., Dinauer, M. C., Gahr, M. L., Segal, A. W., Newburger, P. E., et al. (1996) · Immunology Today · doi:10.1016/s0167-5699(96)80905-4 · Cited by 84
Self-citation
Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17
MENON, A. (1989) · Genomics · doi:10.1016/0888-7543(89)90053-0 · Cited by 66
A primary map of ten DNA markers and two serological markers for human chromosome 19
Nakamura, Y., Lathrop, M. G., O'Connell, P., Leppert, M., Lalouel, J.-M., & White, R. L. (1988) · Genomics · doi:10.1016/0888-7543(88)90161-9 · Cited by 66
Contribution of high‐throughput DNA sequencing to the study of primary immunodeficiencies
Pïcard, C., & Fischer, A. (2014) · European Journal of Immunology · doi:10.1002/eji.201444669 · Cited by 69
Update on Chronic Granulomatous Diseases of Childhood
Gallin, J. I. (1990) · JAMA · doi:10.1001/jama.1990.03440110099036 · Cited by 65
Chapter 1 Common Genetic Variation and Human Disease
Orr, N., & Chanock, S. J. (2008) · Advances in genetics · doi:10.1016/s0065-2660(08)00601-9 · Cited by 66
The Anatomy of the Human Genome
McKusick, V. A. (2001) · JAMA · doi:10.1001/jama.286.18.2289 · Cited by 63
Transcriptional regulation of the leukocyte adherence protein beta subunit during human myeloid cell differentiation.
Hickstein, D. D., Hickey, M. J., & Collins, S. J. (1988) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)68323-1 · Cited by 64
Regulation of growth and apoptosis of cultured guinea pig gastric mucosal cells by mitogenic oxidase 1
Teshima, S., Kutsumi, H., Kawahara, T., Kishi, K., & Rokutan, K. (2000) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.2000.279.6.g1169 · Cited by 63
In vitro regulation of human phagocyte cytochrome b heavy and light chain gene expression by bacterial lipopolysaccharide and recombinant human cytokines
Newburger, P. E., Dai, Q., & Whitney, C. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)98531-5 · Cited by 62
Self-citation
Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.
Musarella, M. A., Burghes, A. H. M., Anson‐Cartwright, L., Mahtani, M. M., Argonza, R., Tsui, L. ‐., & Worton, R. G. (1988) · PubMed · Cited by 62
SHP1 Protein-tyrosine Phosphatase Inhibits gp91PHOXand p67PHOX Expression by Inhibiting Interaction of PU.1, IRF1, Interferon Consensus Sequence-binding Protein, and CREB-binding Protein with Homologous Cis Elements in the CYBB andNCF2 Genes
Kautz, B., Kakar, R., David, E., & Eklund, E. A. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m103381200 · Cited by 61
Electron and proton transport by NADPH oxidases
Demaurex, N., & Petheö, G. L. (2005) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2005.1769 · Cited by 59
Sequences of the genes and polypeptide precursors for two bovine protease inhibitors
Creighton, T. E., & Charles, I. G. (1987) · Journal of Molecular Biology · doi:10.1016/0022-2836(87)90711-x · Cited by 61
In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease.
Volpp, B. D., & Lin, Y. (1993) · Journal of Clinical Investigation · doi:10.1172/jci116171 · Cited by 61
Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype
Basile, G. D. S., Bohler, M., Fischer, A., Cartron, J., Dufier, J., Griscelli, C., & Orkin, S. H. (1988) · Human Genetics · doi:10.1007/bf00451463 · Cited by 61
Self-citation
Biochemical characterization of baculovirus-expressed rap1A/Krev-1 and its regulation by GTPase-activating proteins.
Quilliam, L. A., Der, C. J., Clark, R., O’Rourke, E. C., Zhang, K., McCormick, F. P., & Bokoch, G. (1990) · Molecular and Cellular Biology · doi:10.1128/mcb.10.6.2901 · Cited by 61
The Respiratory Burst Oxidase
BABIOR, B. M. (1988) · Hematology/Oncology Clinics of North America · doi:10.1016/s0889-8588(18)30615-4 · Cited by 59
The involvement of oxygen radicals in microbicidal mechanisms of leukocytes and macrophages
Roos, D. (1991) · Journal of Molecular Medicine · doi:10.1007/bf01645142 · Cited by 57
Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).
de Boer, M., de Klein, A., Hossle, J. P., Seger, R. A., Corbeel, L., Weening, R. S., & Roos, D. (1992) · Europe PMC (PubMed Central) · Cited by 58

Authors: Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., & Orkin, S. H.
Affiliations: Harvard University (US)
University of Massachusetts Chan Medical School (US)
University of Michigan (US)
Boston Children's Hospital (US)
ORCID: Kunkel, Louis M.
Monaco, Anthony P.
Newburger, Peter E.
Orkin, Stuart H.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 1986-07
Volume: 322
Issue: 6074
Pages: 32-38
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/322032a0
OpenAlex: W2040096357
Cited by: 833
References: 43
Citations by year: 2026: 7 · 2025: 5 · 2024: 2 · 2023: 13 · 2022: 5 · 2021: 17 · 2020: 8 · 2019: 13 · 2018: 10 · 2017: 11 · 2016: 18 · 2015: 12 · 2014: 16 · 2013: 19 · 2012: 14
FWCI: 26.84
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
Deep Blue (University of Michigan) (submittedVersion)
Funders: National Cancer Institute (CA 38325)
National Institute of Allergy and Infectious Diseases (AI-21320)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD18661)
Topics: Life Sciences › Immunology and Microbiology › Immunology › Neutrophil, Myeloperoxidase and Oxidative Mechanisms
Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
Health Sciences › Medicine › Hematology › Blood disorders and treatments
Keywords: chronic granulomatous disease, gene cloning, X-linked inheritance, chromosome mapping, phagocytes, gene expression, nucleotide sequence
MeSH terms: Amino Acid Sequence, Base Sequence, Chromosome Deletion, Chromosome Mapping, Cloning, Molecular, DNA, Gene Expression Regulation, Granulomatous Disease, Chronic, Humans, RNA, Tissue Distribution, Transcription, Genetic, Leukemia, Myeloid, Acute

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Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location

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