Article
Prevalence of Wilson disease based on genome databases in Japan.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2021
Yamaguchi Hiroshi, Nagase Hiroaki, Tokumoto Shoichi, Tomioka Kazumi, Nishiyama Masahiro, Takeda Hiroki, Ninchoji Takeshi, Nagano China, Iijima Kazumoto, Nozu Kandai
Abstract excerpt
BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene. In 1984, Scheinberg and Sternlieb estimated the prevalence of WD to be 1:30 000. However, recent epidemiological studies have reported increasing prevalence rates in different populations. The carrier frequency of ATP7B variants and the prevalence of WD in the Japanese population have not been reported using...
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