Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.
Viel
Marion
M
Leroy
Chrystel
C
Des Georges
Marie
M
Claustres
Mireille
M
Bienvenu
Thierry
T
D000483:Alleles; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator