S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy-Reference-Cited by-同舟云学术

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S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy

Published:2018-01-03 Issue:1 Volume:44 Page:
ISSN:1824-7288
Container-title:Italian Journal of Pediatrics
language:en
Short-container-title:Ital J Pediatr

Author:

Terlizzi Vito,Di Lullo Antonella Miriam,Comegna Marika,Centrone Claudia,Pelo Elisabetta,Castaldo Giuseppe,Raia Valeria,Braggion Cesare

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13052-017-0443-z.pdf

Reference43 articles.

1. Farrell PM, White TB, Ren CL, et al. Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017;181S:S4–S15.e1.

2. Bossi A, Casazza G, Padoan R, Milani S. What is the incidence of cystic fibrosis in Italy? Data from the National Registry (1988–2001). Hum Biol. 2004;76:455–67.

3. Castellani C, Cuppens H, Macek M Jr, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros. 2008;7:179–96.

4. Fanen P, Wohlhuter-Haddad A, Hinzpeter A. Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies. Int J Biochem Cell Biol. 2014;52:94–102.

5. O'Sullivan BP, Freedman SD. Cystic fibrosis. Lancet. 2009;373:1891–904.

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1. CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids;Orphanet Journal of Rare Diseases;2024-09-13

2. Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population;BMC Pediatrics;2024-07-01

3. Cystic fibrosis and CFTR-related disorder with electrolyte imbalance at diagnosis: clinical features and outcome in an Italian cohort;European Journal of Pediatrics;2023-09-19

4. Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators;International Journal of Molecular Sciences;2023-03-31

5. Real-time observation of functional specialization among phosphorylation sites in CFTR;Journal of General Physiology;2023-01-25

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