• Mutation; HGNC; 7468; MTR; Simple; c.340-166A>G; ClinVar=VCV000014281; Zygosity=Heterozygous (CelloPub=CLPUB00662).
  
• Mutation; HGNC; 7468; MTR; Simple; p.Leu705Glnfs*4 (c.2114_2115delTC) (c.2112_2113delTC); ClinVar=VCV000014282; Zygosity=Heterozygous (CelloPub=CLPUB00662).
  

PubMed=1627355; DOI=10.1016/0885-4505(92)90032-T
Sillaots S.L., Hall C.A., Hurteloup V., Rosenblatt D.S.
Heterogeneity in cblG: differential retention of cobalamin on methionine synthase.
Biochem. Med. Metab. Biol. 47:242-249(1992)

PubMed=8968737; DOI=10.1093/hmg/5.12.1867
Leclerc D., Campeau E., Goyette P., Adjalla C.-E., Christensen B., Ross M., Eydoux P., Rosenblatt D.S., Rozen R., Gravel R.A.
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.
Hum. Mol. Genet. 5:1867-1874(1996)

PubMed=9235907; DOI=10.1074/jbc.272.31.19171
Gulati S., Chen Z.-Q., Brody L.C., Rosenblatt D.S., Banerjee R.
Defects in auxiliary redox proteins lead to functional methionine synthase deficiency.
J. Biol. Chem. 272:19171-19175(1997)

CLPUB00662
Yamani L.
Studies on transcobalamin in cultured fibroblasts from patients with inborn errors of cobalamin metabolism.
Thesis PhD (2008); McGill University Montreal; Montreal; Canada