Interference of P1290 P polymorphism in molecular diagnosis of cystic fibrosis [3];Interference du polymorphisme P1290 P (4002 A → G) au cours du diagnostic moleculaire de mucoviscidose utilisant la methode cystic fibrosis assay: un exemple de piege diagnostique

Annales de Biologie Clinique

Volumn 57, Issue 6, 1999, Pages 741-742

  Bienvenu, T ^a   Bousquet, S ^a   Souville, I ^a   Beldjord, C ^a  

^a Institut Cochin   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS; GENETIC POLYMORPHISM; HUMAN; LETTER; ALLELE; CHILD; COMPARATIVE STUDY; EXON; GENE AMPLIFICATION; GENETICS; HETEROZYGOTE; HETEROZYGOTE DETECTION; HOMOZYGOTE; MUTATION; OLIGONUCLEOTIDE PROBE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION;

CFTR PROTEIN, HUMAN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELES; CHILD; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; GENE AMPLIFICATION; HETEROZYGOTE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; MUTATION; OLIGONUCLEOTIDE PROBES; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 0033227657     PISSN: 00033898     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (3)

1. Bienvenu T. Les bases moléculaires de l'hétérogénéité phénotypique dans la mucoviscidose. Ann Biol Clin 1997 ; 55 : 113-21.
2. Eggerding FA, Iovannisci DM, Brinson E, Grossman P, Winn-Deen S Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations. Hum Mutat 1995 ; 5 : 153-65.
3. Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C. Mutation heterogeneity of cystic fibrosis in France : screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide. Hum Mutat 1995 ; 6 : 23-9.