Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
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ABSTRACT:
SUBMITTER: Dursun A
PROVIDER: S-EPMC3509809 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
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Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
Dursun A A Ozgül R K RK Sivri S S Tokatlı A A Güzel A A Mesci L L Kılıç M M Aliefendioglu D D Ozçay F F Gündüz M M Coşkun T T
JIMD reports 20110622
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 patients with tyrosinemia type I. In addition, clinical and biochemical findings were evaluated to establish a genotype-phenotype relationship in the patients. Mutation screening was performed using a 50K custom-designed resequencing microarray chip (TR_06_01r520489, Affymetrix) and sequencin ...[more]
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