Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene.
Claustres
M
M
Laboratoire de Biochimie Génétique, CNRS UPR-9008, CRBM U249, Montpellier, France.
Laussel
M
M
Desgeorges
M
M
Demaille
J
J
D000293:Adolescent; D000483:Alleles; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D016368:Frameshift Mutation; D005796:Genes; D006801:Humans; D008297:Male; 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