KEGG   VARIANT: 4143v1
Entry
4143v1                      Variant                                
Name
MAT1A deficiency
Gene
MAT1A  methionine adenosyltransferase 1A [KO:K00789]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610550
Network
nt06030  Methionine metabolism
Disease
H00184  Hypermethioninemia
Reference
PMID:7560086
  Authors
Ubagai T, Lei KJ, Huang S, Mudd SH, Levy HL, Chou JY
  Title
Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.
  Journal
J Clin Invest 96:1943-7 (1995)
DOI:10.1172/JCI118240
LinkDB

DBGET integrated database retrieval system