Mutations located in exon 24 of the CFTR gene are associated with a mild cystic fibrosis phenotype.
Bienvenu
T
T
Viel
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Leroy
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Van Esch
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Fajac
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Dusser
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Hubert
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D
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002712:Chlorides / Q000032:analysis; D018388:Codon, Terminator / Q000235:genetics; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics; D013542:Sweat / Q000737:chemistry
C505032:CFTR protein, human; D002712:Chlorides; D018388:Codon, Terminator; D012333:RNA, Messenger; D019005:Cystic Fibrosis Transmembrane Conductance Regulator