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Titolo:
Cystic fibrosis mutations: Report from the French registry
Autore:
Guilloud-Bataille, M; De Crozes, D; Rault, G; Degioanni, A; Feingold, J;
Indirizzi:
Univ Paris 07, Unite Rech Epidemiol Genet, INSERM, U155, F-75005 Paris, France Univ Paris 07 Paris France F-75005 , INSERM, U155, F-75005 Paris, France Ctr Helio Marin, Roscoff, France Ctr Helio Marin Roscoff FranceCtr Helio Marin, Roscoff, France Assoc Francaise Lutte Mucoviscidose, Paris, France Assoc Francaise Lutte Mucoviscidose Paris France scidose, Paris, France
Titolo Testata:
HUMAN HEREDITY
fascicolo: 2, volume: 50, anno: 2000,
pagine: 142 - 145
SICI:
0001-5652(200003/04)50:2<142:CFMRFT>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
CFTR GENE; CHROMOSOMES; POPULATION; ACCOUNT; ALLELES;
Keywords:
cystic fibrosis; mutations; France;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Feingold, J Univ Paris 07, Unite Rech Epidemiol Genet, INSERM, U155, Case 7041,2 Pl Jussieu, F-75005 Paris, France Univ Paris 07 Case 7041,2 Pl Jussieu Paris France F-75005 nce
Citazione:
M. Guilloud-Bataille et al., "Cystic fibrosis mutations: Report from the French registry", HUMAN HERED, 50(2), 2000, pp. 142-145

Abstract

Data from 2,666 patients with cystic fibrosis (CF) born in France, submitted during the period of 1992-1996 to the French registry for CF, were used to describe the different mutations, their frequency and their regional distribution. A total of 5,332 CF chromosomes have been analyzed, demonstrating 229 different mutations and accounting for 87% of CF genes in the French population. Delta F508 is the most common mutation at 67.9% of CF mutations, followed by G542X (2.5%), N1303K (2.0%), 1717-1G-->A (1,2%), R553X (0.8%)and G551D (0.7%). The data show a clear geographical variation in the distribution of many of the mutations. Given the geographical heterogeneity of these mutations, carrier screening does not appear to be feasible in most French regions. Copyright (C) 1999 S. Karger AG, Basel.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 00:43:35