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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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Bibliografiske detaljer
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
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2011
Fag:
Online adgang: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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