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

Pediatr Pulmonol. 2024 Mar 19. doi: 10.1002/ppul.26965. Online ahead of print.

Authors

Madhan Kumar¹, Rekha Aaron², Sneha D Varkki¹, Sumita Danda², Sarath Ranganathan³, Grace R Paul⁴

Affiliations

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.

PMID: 38501349
DOI: 10.1002/ppul.26965

No abstract available

Keywords: Réunion, France; South India; cystic fibrosis; rare variant c.1802T > C (p. Ile601Thr).

Publication types

Letter

Grants and funding

None