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...

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Detalles Bibliográficos
Autores principales: Muriello, Michael J., Viall, Sarah, Bottiglieri, Teodoro, Cusmano-Ozog, Kristina, Ferreira, Carlos R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Case Report
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

Internet

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

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