Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference15 articles.
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2. A cross-species analysis of the cystic fibrosis transmembrane conductance regulator. Potential functional domains and regulatory sites.
3. The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations
4. CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells
5. Identification of the Cystic Fibrosis Gene: Genetic Analysis
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