Cystic fibrosis with non‐G551D gating mutations in Italy: Epidemiology and clinical characteristics-Reference-Cited by-同舟云学术

Cystic fibrosis with non‐G551D gating mutations in Italy: Epidemiology and clinical characteristics

Published:2020-11-27 Issue:2 Volume:56 Page:442-449
ISSN:8755-6863
Container-title:Pediatric Pulmonology
language:en
Short-container-title:Pediatric Pulmonology

Author:

Salvatore Donatello¹²^ORCID,Carnovale Vincenzo²³,Majo Fabio²⁴,Padoan Rita²⁵^ORCID,Salvatore Marco²⁶,Taruscio Domenica²⁶,Amato Annalisa²⁷,Ferrari Gianluca²⁶,Campagna Giuseppe²⁷⁸

Affiliation:

1. Cystic Fibrosis Centre Hospital San Carlo Potenza Italy

2. Italian Cystic Fibrosis Registry Rome Italy

3. Cystic Fibrosis Centre, Adult Unit, Department of Translational Medical Science University “Federico II” Naples Italy

4. Cystic Fibrosis Centre, Bambino Gesù Children's Hospital IRCCS Rome Italy

5. Cystic Fibrosis Regional Support Centre, Department of Pediatrics University of Brescia, ASST Spedali Civili Brescia Brescia Italy

6. Undiagnosed Rare Diseases Unit, National Centre for Rare Diseases Istituto Superiore di Sanità Rome Italy

7. Lega Italiana Fibrosi Cistica Rome Italy

8. Department of Clinical and Molecular Medicine University of Rome “La Sapienza” Rome Italy

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ppul.25179

Reference21 articles.

1. Gating of the CFTR Cl−channel by ATP-driven nucleotide-binding domain dimerisation

2. Review of cystic fibrosis;Goetz D;Pediatr Ann,2019

3. From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations

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