• Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Arg157Gln (c.470G>A); ClinVar=VCV000003519; Zygosity=Heterozygous (PubMed=7920641; PubMed=8940272; PubMed=10679944).
  
• Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Pro572Leu (c.1715C>T); ClinVar=VCV002202701; Zygosity=Heterozygous (PubMed=7920641; PubMed=10679944).
  

PubMed=1627352; DOI=10.1016/0885-4505(92)90029-x
David S. Rosenblatt, Helena Lue-Shing, A. Arzoumanian, Lawrence Low-Nang, Nora V. Matiaszuk;
Methylenetetrahydrofolate reductase (MR) deficiency: thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts.
Biochem. Med. Metab. Biol. 47:221-225(1992)

PubMed=7920641; DOI=10.1038/ng0694-195
Philippe Goyette, James S. Sumner, Renate Milos, Alessandra M.V. Duncan, David S. Rosenblatt, Rowena Green Matthews, Rima Rozen;
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification.
Nat. Genet. 7:195-200(1994)

PubMed=7726158; PMCID=PMC1801446
Philippe Goyette, Phyllis Frosst, David S. Rosenblatt, Rima Rozen;
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
Am. J. Hum. Genet. 56:1052-1059(1995)

PubMed=8940272; PMCID=PMC1914869
Philippe Goyette, Benedicte Christensen, David S. Rosenblatt, Rima Rozen;
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
Am. J. Hum. Genet. 59:1268-1275(1996)

PubMed=10679944; DOI=10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I
Sahar Sibani, Benedicte Christensen, Erin O'Ferrall, Irfan Saadi, Francois Hiou-Tim, David S. Rosenblatt, Rima Rozen;
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
Hum. Mutat. 15:280-287(2000)

Patent=US6528259
Rima Rozen, Philippe Goyette;
Methods for detecting human methylenetetrahydrofolate reductase allelic variants.
Patent number US6528259, 04-Mar-2003