Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140.
Clavel
C
C
Laboratoire Pol-Bouin, INSERM U.314, C.H.R.U. Maison Blanche, Reims, France.
Pennaforte
F
F
Pigeon
F
F
Verlingue
C
C
Birembaut
P
P
Férec
C
C
D000328:Adult; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005602:France; D005796:Genes / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator