Condition: Methylcobalamin Deficiency, CblG Type
rs121913578 in
MTR gene and
Methylcobalamin Deficiency, CblG Type
PMID 8968737 1996 Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.
PMID 8968736 1996 Defects in human methionine synthase in cblG patients.
PMID 12068375 2002 Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.