Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China

Cystic fibrosis is a rare disease in Chinese populations, with quite few cases reported in literature. This is the largest study so far and most comprehensive analysis of genotypic features of CF in Chinese population till today. Meanwhile, the geographical distributions of the most frequent variants were reported for the first time. This study could expand our knowledge on the genotypic spectrum of CF in Chinese population, which will bring significant contribution to prevention, diagnosis, and even future molecular genetic management of the disease in China. (By Dr. Yuelin Shen, https://jmg.bmj.com/content/early/2022/07/20/jmg-2022-108501 )

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