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.