1283 del A: a novel mutation in exon 8 of the cystic fibrosis gene.
Bienvenu
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Laboratoire de Biochimie Génétique and INSERM U 129, CHU Cochin, France.
Bousquet
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Lyonnet
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Kaplan
J C
JC
Beldjord
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C
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005602:France; D006801:Humans; D007231:Infant, Newborn; D008297:Male
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator