What can the CF registry tell us about rare CFTR-mutations? A Belgian study-Reference-Cited by-同舟云学术

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What can the CF registry tell us about rare CFTR-mutations? A Belgian study

Published:2017-08-22 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

De Wachter E.,Thomas M.,Wanyama S. S.,Seneca S.,Malfroot A.

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0694-1.pdf

Reference36 articles.

1. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration. 2000;67:117–33.

2. Castellani C, Cuppens H, Macek M, Cassiman JJ, Kerem E, Durie P, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in practice. J Cyst Fibros. 2008;7:179–96. doi: 10.1016/j.jcf.2008.03.009 .

3. Zemanick ET, Harris JK, Conway S, Konstan MW, Marshall B, Quittner AL, et al. Measuring and improving respiratory outcomes in cystic fibrosis lung disease: opportunities and challenges to therapy. J Cyst Fibros. 2010;9:1–16. doi: 10.1016/j.jcf.2009.09.003 .

4. Castellani C. CFTR2: how will it help care? Paediatr Respir Rev. 2013;14S:2–5. doi: 10.1016/j.prrv.2013.01.006 .

5. Simmonds NJ, D'Souza LD, Roughton M, Alton EWFW, Davies JC, Hodson ME. Cystic fibrosis and survival to 420 years: a study of cystic fibrosis transmembrane conductance regulator function. Eur Respir J. 2011;37:1076–82. doi: 10.1183/09031936.00079010 .

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