
Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia
Keywords: هیپر متیونینمی; MAT; methionine adenosyltransferase; PPPase; tripolyphosphatase; AdoMet; S-adenosyl-methionine; WT; wild-type; AdoHcy; S-adenosyl-homocysteine; Methionine adenosyltransferase I/III deficiency; Hypermethioninemia; MAT1A; Mudd's disease;