Identification of a novel cystic fibrosis mutation in three patients of South Asian descent

ConclusionOur work highlights the value of extended or targeted genotyping in selected populations. It also demonstrates the benefit of routine collaboration between national registries. This will promote the identification of novel mutations; leading to greater understanding of genotype ‐phenotype associations, improved individual prognostication and ultimately the improved availability of novel precision therapies. This collaboration is essential if we are to achieve health equality for people with CF living in resource‐limited settings.

Source: The Clinical Respiratory Journal - March 16, 2020 Category: Respiratory Medicine Authors: Aisling Semple, Tara Clark, Nicholas M. Allen, Thanuja Krishnananthan, Chinedu Nwokoro, Emmanuelle Girodon, Michele Porzio, Mary Herzig Tags: BRIEF REPORT Source Type: research