Article
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
Molecular genetics and metabolism - 1 Dec 2011
Imtiaz Faiqa, Rashed Mohamed S, Al-Mubarak Bashayer, Allam Rabab, El-Karaksy Hanaa, Al-Hassnan Zuhair, Al-Owain Mohammed, Al-Zaidan Hamad, Rahbeeni Zuhair, Qari Alya, Meyer Brian F, Al-Sayed Moeen
Abstract excerpt
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...
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