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

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 nomencl...

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Detalles Bibliográficos
Autores principales: Farhat, Raëd, Puissesseau, Géraldine, El-Seedy, Ayman, Pasquet, Marie-Claude, Adolphe, Catherine, Corbani, Sandra, Megarbané, André, Kitzis, Alain, Ladeveze, Véronique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449874/
https://www.ncbi.nlm.nih.gov/pubmed/26075213
http://dx.doi.org/10.1155/2015/138103

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449874/
https://www.ncbi.nlm.nih.gov/pubmed/26075213
http://dx.doi.org/10.1155/2015/138103

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