Disease characterization of people with cystic fibrosis and a minimal function mutation: Data from the Italian registry

Author:

Salvatore Donatello12ORCID,Carnovale Vincenzo23,Majo Fabio24ORCID,Padoan Rita25ORCID,Quattrucci Serena26,Salvatore Marco27,Taruscio Domenica27,Amato Annalisa26,Ferrari Gianluca27,Campagna Giuseppe268

Affiliation:

1. Cystic Fibrosis Centre, Pediatric Division Hospital San Carlo Potenza Italy

2. Italian Cystic Fibrosis Registry Istututo Superiore di Sanità Rome Italy

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

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

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

6. LIFC Lega Italiana Fibrosi Cistica ‐ ONLUS Italian Cystic Fibrosis League Rome Italy

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

8. Department of Medical‐Surgical Sciences and Translational Medicine, Faculty of Medicine and Psychology La Sapienza University of Rome Rome Italy

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology, and Child Health

Reference29 articles.

1. Cystic fibrosis

2. Cystic fibrosis

3. Background and Epidemiology

4. Cystic Fibrosis Mutation Database (CFTR1). Toronto: Hospital for Sick Children. Accessed May 3 2021.http://www.genet.sickkids.on.ca/

5. CFTR2.org. Clinical and functional translation of CFTR. Baltimore: Johns Hopkins University. Accessed May 3 2021.http://www.cftr2.org/

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