Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/hgv201638.pdf
Reference48 articles.
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2. Kerem E, Corey M, Kerem B-S, Rommens J, Markiewicz D, Levison H et al. The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (deltaF508). N Engl J Med 1990; 323: 1517–1522.
3. Bobadilla JL, Macek M, Fine JP, Farrell PM . Cystic fibrosis: a worldwide analysis of CFTR mutations - correlation with incidence data and application to screening. Hum Mutat 2002; 19: 575–606.
4. Qu BH, Strickland E, Thomas PJ . Cystic fibrosis: a disease of altered protein folding. J Bioenerg Biomembr 1997; 29: 483–490.
5. Cutting GR . Modifier genes in Mendelian disorders: the example of cystic fibrosis. Ann NY Acad Sci 2010; 1214: 57–69.
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