
		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources

Genes > FAH >

References

These sources were used to develop the Genetics Home Reference gene summary on the FAH gene.

Arranz JA, Piñol F, Kozak L, Pérez-Cerdá C, Cormand B, Ugarte M, Riudor E. Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients. Hum Mutat. 2002 Sep;20(3):180-8. PubMed citation
Bergeron A, D'Astous M, Timm DE, Tanguay RM. Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. J Biol Chem. 2001 May 4;276(18):15225-31. Epub 2001 Jan 22. PubMed citation
Demers SI, Russo P, Lettre F, Tanguay RM. Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia. Hum Pathol. 2003 Dec;34(12):1313-20. PubMed citation
Entrez Gene
OMIM: TYROSINEMIA, TYPE I
St-Louis M, Tanguay RM. Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. Hum Mutat. 1997;9(4):291-9. Review. PubMed citation

Reviewed: January 2008

Published: May 20, 2013