Genotype–phenotype relationship for five CFTR mutations frequently identified in western France

Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with more than 1000 cystic fibrosis transmembrane conductance regulator (CFTR) mutations presently described. The distribution of the mutations ranges widely between countries and/or ethnic groups. Multicentric stud...

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Veröffentlicht in:	Journal of cystic fibrosis 2004-12, Vol.3 (4), p.259-263
Hauptverfasser:	Duguépéroux, Ingrid, De Braekeleer, Marc
Format:	Artikel
Sprache:	eng
Schlagworte:	1078delT 4005+1G->A Adolescent Adult Alleles Child Child, Preschool Cystic fibrosis Cystic Fibrosis - epidemiology Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics E60X Female France France - epidemiology Gene Frequency Genotype Genotype–phenotype Humans Infant Infant, Newborn Male Mutation Phenotype Rare mutations Registries Retrospective Studies W846X ΔI507
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