Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.

@article{Dursun2011MutationSO,
  title={Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.},
  author={Ali Emre Dursun and Riza K{\"o}ksal Ozg{\"u}l and Serap Hatice Kalkanoğlu Sivri and Ayşeg{\"u}l Tokatlı and Ayşeg{\"u}l G{\"u}zel and L{\"u}tfiye Mesci and Mustafa Ercan Kılıç and Didem Al{\'i}efend{\'i}oğlu and Figen Ozçay and Mehmet Kemal G{\"u}nd{\"u}z and Turgay Çoskun},
  journal={JIMD reports},
  year={2011},
  volume={1},
  pages={17-21}
}
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… CONTINUE READING