Mutations of the MTHFR gene (428C>T and [458G>T+459C>T]) markedly decrease MTHFR enzyme activity

Neurogenetics

Volumn 5, Issue 2, 2004, Pages 135-140

  Yano, Hidetaka ^a   Nakaso, Kazuhiro ^a   Yasui, Kenichi ^a   Wakutani, Yosuke ^a   Nakayasu, Hiroyuki ^a   Kowa, Hisanori ^a   Adachi, Yoshiki ^a   Nakashima, Kenji ^a  

^a TOTTORI UNIVERSITY   (Japan)

Author keywords

Enzyme activity; Methylenetetrahydrofolate reductase; MTHFR; Mutations

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); HOMOCYSTEINE; METHIONINE;

ADOLESCENT; ARTICLE; CASE REPORT; CEREBROVASCULAR DISEASE; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENE; GENE MUTATION; HUMAN; HYPERHOMOCYSTEINEMIA; MALE; MTHFR GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADOLESCENT; AMINO ACID SEQUENCE; DEVELOPMENTAL DISABILITIES; ENZYME ACTIVATION; HAPLOTYPES; HUMANS; HYPERHOMOCYSTEINEMIA; MALE; MENTAL RETARDATION; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 3042529205     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-004-0177-0     Document Type: Article

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