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Titolo:
AN ADDITIONAL ALLELIC VARIANT OF THE CYP2D6 GENE CAUSING IMPAIRED METABOLISM OF SPARTEINE
Autore:
MAREZ D; LEGRAND M; SABBAGH N; LOGUIDICE JM; BOONE P; BROLY F;
Indirizzi:
CTR HOSP REG & UNIV LILLE,HOP CALMETTE,LAB BIOCHIM & BIOL MOLEC,AVE PR J LECLERCQ F-59037 LILLE FRANCE
Titolo Testata:
Human genetics
fascicolo: 5, volume: 97, anno: 1996,
pagine: 668 - 670
SICI:
0340-6717(1996)97:5<668:AAAVOT>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
POOR METABOLIZERS; DEBRISOQUINE; AMPLIFICATION; LOCUS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
19
Recensione:
Indirizzi per estratti:
Citazione:
D. Marez et al., "AN ADDITIONAL ALLELIC VARIANT OF THE CYP2D6 GENE CAUSING IMPAIRED METABOLISM OF SPARTEINE", Human genetics, 97(5), 1996, pp. 668-670

Abstract

The identification of a novel CYP2D6 allele from a healthy Caucasian poor metabolizer was achieved by using a previously described polymerase chain reaction/single-strand conformation polymorphism strategy. Among the four point mutations that this allele carries, a missense mutation in exon 1 (212 G --> A or D6-H) seems to be responsible for the loss of CYP2D6 function. Although the mutation D6-H has a low prevalence in a randomly selected population of healthy Caucasians, its identification should further increase the phenotype prediction rate by genotyping.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 08/04/20 alle ore 11:36:14