Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8.
Chevalier-Porst
F
F
Centre d'Etudes des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
Mathieu
M
M
Bozon
D
D
D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017384:Sequence Deletion
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA