Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 335-338

  Vreken, P ^a   Van Kuilenburg, A B P ^a   Meinsma, R ^a   Van Gennip, A H ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; DNA; MESSENGER RNA;

AMINO ACID SUBSTITUTION; CASE REPORT; CONFERENCE PAPER; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME STRUCTURE; FEMALE; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; POINT MUTATION;

CHILD; DIHYDROURACIL DEHYDROGENASE (NADP); DNA; DNA, COMPLEMENTARY; FIBROBLASTS; FRAMESHIFT MUTATION; GENOME; HUMANS; INFANT; MALE; MENTAL RETARDATION; OXIDOREDUCTASES; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; RNA;

EID: 0030758197     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005357307122     Document Type: Conference Paper

References (12)

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