A rare variant c.1802T>C (p. Ile601Thr) associated with severe phenotype among people with cystic fibrosis from south India, and potential genetic admixture in Réunion, France-Reference-Cited by-同舟云学术

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A rare variant c.1802T>C (p. Ile601Thr) associated with severe phenotype among people with cystic fibrosis from south India, and potential genetic admixture in Réunion, France

Published:2024-03-19 Issue:6 Volume:59 Page:1820-1825
ISSN:8755-6863
Container-title:Pediatric Pulmonology
language:en
Short-container-title:Pediatric Pulmonology

Author:

Kumar Madhan¹,Aaron Rekha²,Varkki Sneha D.¹,Danda Sumita²,Ranganathan Sarath³,Paul Grace R.⁴^ORCID

Affiliation:

1. Department of Pediatrics Christian Medical College Vellore India

2. Department of Medical Genetics Christian Medical College Vellore India

3. Murdoch Children's Research Institute University of Melbourne Australia

4. Division of Pulmonary and Sleep Medicine Nationwide Children's Hospital Columbus Ohio USA

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ppul.26965

Reference16 articles.

1. Cystic Fibrosis

2. Worldwide rates of diagnosis and effective treatment for cystic fibrosis

3. https://cftr2.org/. Clinical and Functional Translation of CFTR. 2023;Last accessed on Oct 14 2023; Updated on Sept 22 2023.

4. Cystic Fibrosis Mutation Database.http://www.genet.sickkids.on.ca/StatisticsPage.html.2023; Last accessed on August 16 2023

5. https://cftr.iurc.montp.inserm.fr/cftr. CFTR‐France database. Last accessed on December 6 2023 Updated September 22 2023.

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