Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene-Reference-Cited by-同舟云学术

Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

Published:2009-10 Issue:44 Volume:284 Page:30024-30031
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Faà Valeria,Incani Federica,Meloni Alessandra,Corda Denise,Masala Maddalena,Baffico A.Maria,Seia Manuela,Cao Antonio,Rosatelli M.Cristina

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference36 articles.

1. Cystic Fibrosis: The Metabolic and Molecular Bases of Inherited Disease;Welsh,1995

2. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations

3. Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

4. Frequent Occurrence of the CFTR Intron 8 (TG)n 5T Allele in Men with Congenital Bilateral Absence of the Vas Deferens

5. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis

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