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Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene
Methionine adenosyltransferase (MAT) deficiency, characterized by isolated persistent hypermethioninemia (IPH), is caused by mutations in the MAT1A gene encoding MATαl, one of the major hepatic enzymes. Most of the associated hypermethioninemic conditions are inherited as autosomal recessive traits;...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
International Union of Crystallography
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7271947/ https://www.ncbi.nlm.nih.gov/pubmed/32496220 http://dx.doi.org/10.1107/S2059798320006002 |