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Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia
Methionine adenosyltransferase (MAT) I/III deficiency is an inborn error of metabolism caused by mutations in MAT1A, encoding the catalytic subunit of MAT responsible for the synthesis of S-adenosylmethionine, and is characterized by persistent hypermethioninemia. While historically considered a rec...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512230/ https://www.ncbi.nlm.nih.gov/pubmed/28748147 http://dx.doi.org/10.1016/j.ymgmr.2017.07.004 |