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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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Hollán, Susan, Magócsi, Mária, Fodor, Elfrieda, Horányi, Margit, Harsányi, Veronika, Farkas, Tibor
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1997
Assuntos:	Biological Sciences
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC23368/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9294216/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.94.19.10362
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