A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene.
Feldmann
D
D
Laboratoire de Biochimie, Service de Pneumologie pédiatrique, Hopital A. Trousseau, APHP, Paris, France. dfeldman@infobiogen.fr
Laroze
F
F
Troadec
C
C
Clement
A
A
Tournier
G
G
Couderc
R
R
D000328:Adult; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans
C505032:CFTR protein, human; D018389:Codon, Nonsense; D019005:Cystic Fibrosis Transmembrane Conductance Regulator