• Mutation; HGNC; 7473; MTRR; Simple; p.Val56Met (c.166G>A); ClinVar=VCV001176807; Zygosity=Heterozygous (PubMed=9501215; PubMed=10484769).
  
• Mutation; HGNC; 7473; MTRR; Simple; c.1675del4; ClinVar=VCV000007027; Zygosity=Heterozygous (PubMed=9501215; PubMed=10484769).
  

CLPUB00452
Buchanan J.A.
Fibroblast plasma membrane vesicles to study inborn errors of transport.
Thesis PhD (1984); McGill University Montreal; Montreal; Canada

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=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)

PubMed=9501215; DOI=10.1073/pnas.95.6.3059; PMCID=PMC19694
Leclerc D., Wilson A., Dumas R., Gafuik C., Song D., Watkins D., Heng H.H.-Q., Rommens J.M., Scherer S.W., Rosenblatt D.S., Gravel R.A.
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.
Proc. Natl. Acad. Sci. U.S.A. 95:3059-3064(1998)

PubMed=10484769; DOI=10.1093/hmg/8.11.2009
Wilson A., Leclerc D., Rosenblatt D.S., Gravel R.A.
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.
Hum. Mol. Genet. 8:2009-2016(1999)