| Literature DB >> 21764616 |
Faiqa Imtiaz1, Mohamed S Rashed, Bashayer Al-Mubarak, Rabab Allam, Hanaa El-Karaksy, Zuhair Al-Hassnan, Mohammed Al-Owain, Hamad Al-Zaidan, Zuhair Rahbeeni, Alya Qari, Brian F Meyer, Moeen Al-Sayed.
Abstract
Hereditary Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder resulting from a deficiency of fumarylacetoacetase caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene. We detected 11 novel and 6 previously described pathogenic mutations in a cohort of 43 patients originating from the Middle East with the acute form HT1. All of the mutations were homozygous and we did not find the presence of a "founder mutation".Entities:
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Year: 2011 PMID： 21764616 DOI： 10.1016/j.ymgme.2011.06.019
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797