Identification of a novel missense mutation G239R in exon 6a of the CFTR gene.
Bienvenu
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Laboratoire de Biochimie Génétique, INSERUM U 129, Université René Descartes, Paris V, France.
Cazeneuve
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Fajac
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Dusser
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Hubert
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Kaplan
J C
JC
Beldjord
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D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator