Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity

Human Genetics

Volumn 128, Issue 5, 2010, Pages 529-538

  Van Kuilenburg, André B P ^a,b   Meijer, Judith ^a   Mul, Adri N P M ^b   Meinsma, Rutger ^a   Schmid, Veronika ^c   Dobritzsch, Doreen ^d   Hennekam, Raoul C M ^e   Mannens, Marcel M A M ^b   Kiechle, Marion ^c   Etienne Grimaldi, Marie Christine ^f   Klümpen, Heinz Josef ^b   Maring, Jan Gerard ^g   Derleyn, Veerle A ^h   Maartense, Ed ⁱ   Milano, Gérard ^f   Vijzelaar, Raymon ^j   Gross, Eva ^c  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d KAROLINSKA INSTITUTE   (Sweden)

^e EMMA CHILDREN S HOSPITAL   (Netherlands)

^f CENTRE ANTOINE LACASSAGNE   (France)

^g Bethesda Hospital   (Netherlands)

^h ELKERLIEK HOSPITAL   (Netherlands)

ⁱ MRC Holland Bv ^*  (Netherlands)

^j MRC HOLLAND   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL; MESSENGER RNA PRECURSOR; ANTINEOPLASTIC ANTIMETABOLITE; MESSENGER RNA;

ARTICLE; CANCER PATIENT; CANCER STAGING; COMPARATIVE GENOMIC HYBRIDIZATION; DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY; EXON; GENE DELETION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SEQUENCE ANALYSIS; UNSPECIFIED SIDE EFFECT; ADULT; AGED; DNA SEQUENCE; FEMALE; GENE REARRANGEMENT; GENETICS; MALE; METABOLISM; MIDDLE AGED; RNA SPLICING;

ADULT; AGED; ANTIMETABOLITES, ANTINEOPLASTIC; COMPARATIVE GENOMIC HYBRIDIZATION; DIHYDROURACIL DEHYDROGENASE (NADP); FEMALE; FLUOROURACIL; GENE REARRANGEMENT; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RNA SPLICING; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 78049435885     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0879-3     Document Type: Article

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