A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family.
Monnier
N
N
Gout
J P
JP
Pin
I
I
Gauthier
G
G
Lunardi
J
J
D001483:Base Sequence; D044383:Black People; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA