Article
N1303K (c.3909C>G) mutation and splicing: implication of its c.[744-33GATT(6); 869+11C>T] complex allele in CFTR exon 7 aberrant splicing.
BioMed research international - 1 Jan 2015
Farhat Raëd, Puissesseau Géraldine, El-Seedy Ayman, Pasquet Marie-Claude, Adolphe Catherine, Corbani Sandra, Megarbané André, Kitzis Alain, Ladeveze Véronique
Abstract excerpt
Cystic Fibrosis is the most common recessive autosomal rare disease found in Caucasians. It is caused by mutations on the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) that encodes a protein located on the apical membrane of epithelial cells. c.3909C>G (p.Asn1303Lys, old nomenclature: N1303K) is one of the most common worldwide mutations. This mutation has been found at high frequencies in the...
Topics
- Alleles
- Amino Acid Substitution
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA, Complementary
- Exons
- HEK293 Cells
- HT29 Cells
- HeLa Cells
- Humans
- Lebanon
- Molecular Sequence Data