A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis.
Claustres
M
M
INSERM U249/CNRS UPR 8402, Institut de Biologie, Montpellier, France.
Gerrard
B
B
White
M B
MB
Desgeorges
M
M
Kjellberg
P
P
Rollin
B
B
Dean
M
M
D000328:Adult; D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005091:Exons; D005602:France; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator