Rapid detection of 1078 delT mutation by PCR-mediated site-directed mutagenesis: detection of cystic fibrosis carriers in a celtic population.
Dorval
I
I
Lab. de Génét. Moléc., CHU Pontchaillou, Rennes, France.
Fergelot
P
P
Dubourg
C
C
Jézéquel
P
P
Chauvel
B
B
Le Gall
J Y
JY
Le Treut
A
A
D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed; D016133:Polymerase Chain Reaction
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator