Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.
Romey
M C
MC
Laboratoire de Biochimie Génétique, CNRS UPR-9008, INSERM U249 & GREPAM, Montpellier, France.
Desgeorges
M
M
Laussel
M
M
Durand
M F
MF
Demaille
J
J
Claustres
M
M
D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D018118:Chloride Channels / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D012016:Reference Values; D017384:Sequence Deletion
C505032:CFTR protein, human; D018118:Chloride Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator