Ontology highlight
ABSTRACT:
SUBMITTER: Hinzpeter A
PROVIDER: S-EPMC2951375 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
Hinzpeter Alexandre A Aissat Abdel A Sondo Elvira E Costa Catherine C Arous Nicole N Gameiro Christine C Martin Natacha N Tarze Agathe A Weiss Laurence L de Becdelièvre Alix A Costes Bruno B Goossens Michel M Galietta Luis J LJ Girodon Emmanuelle E Fanen Pascale P
PLoS genetics 20101007 10
Approximately 30% of alleles causing genetic disorders generate premature termination codons (PTCs), which are usually associated with severe phenotypes. However, bypassing the deleterious stop codon can lead to a mild disease outcome. Splicing at NAGNAG tandem splice sites has been reported to result in insertion or deletion (indel) of three nucleotides. We identified such a mechanism as the origin of the mild to asymptomatic phenotype observed in cystic fibrosis patients homozygous for the E83 ...[more]