Zystische Fibrose
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/978-3-642-34827-3_28
Reference102 articles.
1. Alfonso-Sanchez MA, Perez-Miranda AM, Garcia-Obregon S, Pena JA. An evolutionary approach to the high frequency of the Delta F508 CFTR mutation in European populations. Med Hypotheses 2010; 74: 989–992
2. Bobadilla JL, Macek M Jr, 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
3. Bombieri C, Claustres M, De Boeck K et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 2011; 10 Suppl 2: S86–S102
4. Dequeker E, Stuhrmann M, Morris MA et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations. Eur J Hum Genet 2009; 17: 51–65
5. Eckford PDW, Li C, Ramjeesingh M, Bear CE. Cystic fibrosis transmembrane conductance regulator (CFTR) potentiator VX-770 (ivacaftor) opens the defective channel gate of mutant CFTR in a phosphorylation- dependent but ATP-independent manner. J Biol Chem 2012; 287: 36639–36649
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