Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene.

Methionine adenosyltransferase (MAT) I/III deficiency, characterized by isolated persistent hypermethioninemia, is caused by mutations in the MAT1A gene encoding MAT(alpha)1, the subunit of major hepatic enzymes MAT I ([alpha1]4) and III([alpha1]2). We have characterized 10 MAT1A mutations in MAT I/...

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Main Authors: Chamberlin, M E, Ubagai, T, Mudd, S H, Levy, H L, Chou, J Y
Formato: Artigo
Idioma:Inglês
Publicado: 1997
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712529/
https://ncbi.nlm.nih.gov/pubmed/9042912
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