Identification of a four-base deletion (delTCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression

Human Genetics

Volumn 100, Issue 2, 1997, Pages 263-265

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

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DIHYDROPYRIMIDINE DEHYDROGENASE;

ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; CONVULSION; ENZYME DEFICIENCY; FAMILY STUDY; FEMALE; GENE DELETION; HUMAN; HUMAN CELL; PRIORITY JOURNAL; STOP CODON; TANDEM REPEAT;

ADULT; CHILD, PRESCHOOL; DIHYDROURACIL DEHYDROGENASE (NADP); DNA, COMPLEMENTARY; FEMALE; FRAMESHIFT MUTATION; HOMOZYGOTE; HUMANS; MALE; MODELS, GENETIC; NETHERLANDS; OXIDOREDUCTASES; POLYMERASE CHAIN REACTION; PROTEIN BIOSYNTHESIS; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; REPETITIVE SEQUENCES, NUCLEIC ACID; SEIZURES; SEQUENCE DELETION; URACIL;

EID: 0030753062     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050502     Document Type: Article

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