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

CLPUB00452
Janet A. Buchanan;
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
Susan Linda Sillaots, Charles A. Hall, Valerie Hurteloup, David S. Rosenblatt;
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
Sumedha Gulati, Zhi-Qiang Chen, Lawrence C. Brody, David S. Rosenblatt, Ruma Banerjee;
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
Daniel Leclerc, Aaron Wilson, Richard Dumas, Christopher J. Gafuik, Dan Song, David Watkins, Henry Hong-Qiang Heng, Johanna M. Rommens, Stephen Wayne Scherer, David S. Rosenblatt, Roy A. Gravel;
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
Aaron Wilson, Daniel Leclerc, David S. Rosenblatt, Roy A. Gravel;
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)