Article
Clinical and genetic features of cystic fibrosis in Japan.
Journal of human genetics - 1 Oct 2023
Kozawa Yuka, Yamamoto Akiko, Nakakuki Miyuki, Fujiki Kotoyo, Kondo Shiho, Okada Takuto, Fukuyasu Tomoya, Yamaguchi Makoto, Taniguchi Itsuka, Nomura Nao, Liu Libin, Higuchi Mayuko, Niwa Erina, Sohma Yoshiro, Naruse Satoru, Takeyama Yoshifumi, Ishiguro Hiroshi
Abstract excerpt
Cystic fibrosis (CF) is an autosomal recessive disease caused by pathogenic variants in CF transmembrane conductance regulator (CFTR). While CF is the most common hereditary disease in Caucasians, it is rare in East Asia. In the present study, we have examined clinical features and the spectrum of CFTR variants of CF patients in Japan. Clinical data of 132 CF patients were obtained from the national...
Topics
- Humans
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Mutation
- Japan
- Genotype