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Search for the pathogenesis of the differing phenotype in two compound heterozygote Hungarian brothers with the same genotypic triosephosphate isomerase deficiency

In a Hungarian family with triosephosphate isomerase (TPI) deficiency, two compound heterozygote brothers were found with the same severe decrease in TPI activity, but only one of them had the classical symptoms. In search for the pathogenesis of the differing phenotype of the same genotypic TPI def...

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Bibliografski detalji
Glavni autori: Hollán, Susan, Magócsi, Mária, Fodor, Elfrieda, Horányi, Margit, Harsányi, Veronika, Farkas, Tibor
Format: Artigo
Jezik:Inglês
Izdano: The National Academy of Sciences of the USA 1997
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC23368/
https://ncbi.nlm.nih.gov/pubmed/9294216
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