Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers.
Ramalho
A S
AS
Department of Chemistry and Biochemistry, Faculty of Sciences, University of Lisboa, Portugal.
Beck
S
S
Penque
D
D
Gonska
T
T
Seydewitz
H H
HH
Mall
M
M
Amaral
M D
MD
D017398:Alternative Splicing / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004742:Enhancer Elements, Genetic / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D017384:Sequence Deletion; D014158:Transcription, Genetic / Q000235:genetics*
C505032:CFTR protein, human; D018076:DNA, Complementary; D012333:RNA, Messenger; D019005:Cystic Fibrosis Transmembrane Conductance Regulator