Clinical and genetic features of cystic fibrosis in Japan

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 C...

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Veröffentlicht in:	Journal of human genetics 2023-10, Vol.68 (10), p.671-680
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Cystic fibrosis Diabetes mellitus Epidemiology Exons Gene deletion Genotypes Hereditary diseases Liver diseases Meconium Medical prognosis Phenotypes
Online-Zugang:	Volltext
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