• Mutation; HGNC; HGNC:6903; MAT1A; Simple; p.Leu305Pro (c.914T>C); ClinVar=VCV000001205; Zygosity=Heterozygous (PubMed=7560086).
  
• Mutation; HGNC; HGNC:6903; MAT1A; Simple; p.Ile322Met (c.966T>G); ClinVar=VCV000001202; Zygosity=Heterozygous (PubMed=7560086).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

CLPUB00720
Greene A.E., Mulivor R.A.
1986/1987 catalog of cell lines. NIGMS human genetic mutant cell repository. 13th edition. October 1986.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=7560086; DOI=10.1172/JCI118240; PMCID=PMC185831
Ubagai T., Lei K.-J., Huang S., Mudd S.H., Levy H.L., Chou J.Y.
Molecular mechanisms of an inborn error of methionine pathway Methionine adenosyltransferase deficiency.
J. Clin. Invest. 96:1943-1947(1995)