摘要: … Loss-of-function mutations in the human PIEZO2 gene cause … Gain-of-function mutations in the human PIEZO2 gene cause … review the hereditary diseases caused by mutations in the …
Mariko Okubo, Atsushi Fujita, Yoshiaki Saito, Hirofumi Komaki, Akihiko Ishiyama, Eri Takeshita, Emiko Kojima, Reiko Koichihara, Takashi Saito, Eiji Nakagawa, Kenji Sugai, Hiroko Yamazaki, Kei Kusaka, Hiroshi Tanaka, Noriko Miyake, Naomichi Matsumoto, Masayuki Sasaki, A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutationAmerican Journal of Medical Genetics Part A. ,vol. 167, pp. 1100- 1106 ,(2015) , 10.1002/AJMG.A.36881