Clinical expression of cystic fibrosis in a large cohort of Italian siblings
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pulmonary and Respiratory Medicine
Link
http://link.springer.com/content/pdf/10.1186/s12890-018-0766-6.pdf
Reference58 articles.
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2. Veit G, Avramescu RG, Chiang AN, Houck SA, Cai Z, Peters KW, et al. From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations. Mol Biol Cell. 2016;27:424–33.
3. Cutting GR. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet. 2015;16:45–56.
4. Koch C, Cuppens H, Rainisio M, Madessani U, Harms H, Hodson M, et al. Investigators of the ERCF: comparison of major disease manifestations between patients with different classes of mutations. Pediatr Pulmonol. 2001;31:1–12.
5. McKone EF, Goss CH, Aitken ML. CFTR genotype as a predictor of prognosis in cystic fibrosis. Chest. 2006;130:1441–7.
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