[Interference of P1290 P polymorphism (4002 A--> G) in molecular diagnosis of mucoviscidosis using the cystic fibrosis assay: an example of a diagnostic trap].
Bienvenu
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Laboratoire de biochimie et de génétique moléculaire, Hôpital Cochin, 123, boulevard de Port-Royal, 75014 Paris.
Bousquet
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Souville
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Beldjord
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D000483:Alleles; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005784:Gene Amplification; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
C505032:CFTR protein, human; D015345:Oligonucleotide Probes; D019005:Cystic Fibrosis Transmembrane Conductance Regulator