A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene.
Ronchetto
P
P
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genoa, Italy.
Telleria Orriols
J J
JJ
Fanen
P
P
Cremonesi
L
L
Ferrari
M
M
Magnani
C
C
Seia
M
M
Goossens
M
M
Romeo
G
G
Devoto
M
M
D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004274:DNA, Recombinant; D005091:Exons; D005809:Genes, Regulator; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics
C505032:CFTR protein, human; D004274:DNA, Recombinant; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA