Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency

European Journal of Human Genetics

Volumn 6, Issue 3, 1998, Pages 257-265

  Kluijtmans, Leo A J ^a   Wendel, Udo ^a,b   Stevens, Erik M B ^a   Van Den Heuvel, Lambert P W J ^a   Trijbels, Frans J M ^a   Blom, Henk J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

Folate; Inborn error of metabolism; Methylenetetrahydrofolate reductase; Mutations; Splice variant

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

ARTICLE; CASE REPORT; CODON; ENZYME DEFICIENCY; FEMALE; FOLATE METABOLISM; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; MISSENSE MUTATION; NONSENSE MUTATION; PATIENT; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0031849810     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200182     Document Type: Article

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