A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.
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Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris, France.
Cazeneuve
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Beldjord
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Dusser
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Kaplan
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Hubert
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D000328:Adult; D001483:Base Sequence; D003062:Codon; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D005796:Genes; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation
C505032:CFTR protein, human; D003062:Codon; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator