Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis.
Niel
F
F
Service de Biochimie et Génétique, AP-HP et INSERM U468, Hôpital Henri-Mondor, 94010 Créteil, France.
Martin
J
J
Dastot-Le Moal
F
F
Costes
B
B
Boissier
B
B
Delattre
V
V
Goossens
M
M
Girodon
E
E
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction; D013997:Time Factors
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator