A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis

Author:

Faa′ Valeria,Coiana Alessandra,Incani Federica,Costantino Lucy,Cao Antonio,Rosatelli Maria Cristina

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference26 articles.

1. Welsh MJ, Tsui LC, Boat TF, Beaudet AI: Cystic fibrosis. The methabolic and molecular bases of inherited disease. Edited by CR Scriver, AI Beaudet, WS Sly, D Valle. New York, 1995, pp 3799–3876

2. The Biomed CF Mutation Analysis Consortium. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European population;Estivill;Hum Mutat,1997

3. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens;Chillon;N Engl J Med,1995

4. Frequent occurrence of the CFTR intron 8 (TG)n5T allele in men with congenital absence of the vas deferens;Costes;Eur J Hum Genet,1995

5. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis;Pignatti;Hum Mol Genet,1995

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