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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 patients with tyrosinemia type I. In addition, clinical and biochemical findings were evaluat...

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Bibliografske podrobnosti
Main Authors: Dursun, A., Özgül, R. K., Sivri, S., Tokatlı, A., Güzel, A., Mesci, L., Kılıç, M., Aliefendioglu, D., Özçay, F., Gündüz, M., Coşkun, T.
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2011
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Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509809/
https://ncbi.nlm.nih.gov/pubmed/23430822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_10
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