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    Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

    Tyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patie...

    A. Dursun, R. K. Özgül, S. Sivri, A. Tokatlı… in JIMD Reports - Case and Research Reports, … (2011)