Skipping of exon 5 as a consequence of the 711 + 1 G-->T mutation in the CFTR gene.
Fonknechten
N
N
INSERM U 129, Paris, France.
Chomel
J C
JC
Kitzis
A
A
Kahn
A
A
Kaplan
J C
JC
D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D012326:RNA Splicing / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics
C505032:CFTR protein, human; D008565:Membrane Proteins; D012333:RNA, Messenger; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA