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Two novel mutations involved in hereditary tyrosinemia type I
Abstract
Maryse St-Louis, Jacques Poudrier, Daniel Phaneuf, Barbara Lecierc, Rachel Laframboise, Robert M. Tanguay; Two novel mutations involved in hereditary tyros
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“At least 26 different mutations in FAH have been identified in HT1 patients, including missense, nonsense, and splice consensus site mutations (5, 11–17).”
From Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 (2001) · cites this paper as [15]
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Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview
St‐Louis, M., & Tanguay, R. M. (1997) · Human Mutation · doi:10.1002/(sici)1098-1004(1997)9:4 · Cited by 97
Self-citationAngileri, F., Bergeron, A., Morrow, G., Lettre, F., Gray, G., Hutchin, T. P., Ball, S., & Tanguay, R. M. (2014) · JIMD Reports · doi:10.1007/8904_2014_363 · Cited by 70
Self-citationAponte, J. L., Sega, G. A., Hauser, L. J., Dhar, M. S., Withrow, C. M., Carpenter, D. A., Rinchik, E. M., Culiat, C. T., & Johnson, D. K. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.98.2.641 · Cited by 68
Demers, S. I., Russo, P., Lettre, F., & Tanguay, R. M. (2003) · Human Pathology · doi:10.1016/s0046-8177(03)00406-4 · Cited by 67
Self-citationGao, Y., Yan, Y., & Huang, T. (2014) · Molecular Medicine Reports · doi:10.3892/mmr.2014.2849 · Cited by 55
Metadata
- Authors
- St-Louis, M., Poudrier, J., Phaneuf, D., Lecierc, B., Laframboise, R., & Tanguay, R. M.
- Affiliations
- Université Laval (CA)
- Centre hospitalier de l'Université Laval (CA)
- Corresponding author
- Tanguay, Robert M.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1995
- Volume
- 4
- Issue
- 2
- Pages
- 319-320
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W108195587
- Cited by
- 12
- References
- 0
- Citations by year
- 2017: 1 · 2014: 3
- FWCI
- 1.11
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- The American Journal of Human Genetics
- Funders
- Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
- Keywords
- tyrosinemia type I, novel mutations, fumarylacetoacetate hydrolase, inborn errors of metabolism, tyrosine metabolism
- MeSH terms
- Adolescent, Amino Acid Metabolism, Inborn Errors, Amino Acid Sequence, Base Sequence, Canada, DNA, Exons, Female, Humans, Hydrolases, Infant, Newborn, Liver, Male, Molecular Sequence Data, Mutation, Norway, Peptides, Tyrosine, Blotting, Western, Polymerase Chain Reaction, Sequence Analysis, DNA
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- CoChat. (2026). Citation check: Two novel mutations involved in hereditary tyrosinemia type I. https://app.cochat.ai/papers/10.1093/hmg/4.2.319
- The paper
- St-Louis, M., Poudrier, J., Phaneuf, D., Lecierc, B., Laframboise, R., & Tanguay, R. M. (1995). Two novel mutations involved in hereditary tyrosinemia type I. Human Molecular Genetics. https://doi.org/10.1093/hmg/4.2.319
