Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome

Noriko Miyake, Tomoki Kosho, Shuji Mizumoto, Tatsuya Furuichi, Atsushi Hatamochi, Yoji Nagashima, Eiichi Arai, Kazuo Takahashi, Rie Kawamura, Keiko Wakui, Jun Takahashi, Hiroyuki Kato, Hiroshi Yasui, Tadao Ishida, Hirofumi Ohashi, Gen Nishimura, Masaaki Shiina, Hirotomo Saitsu, Yoshinori Tsurusaki, Hiroshi DoiYoshimitsu Fukushima, Shiro Ikegawa, Shuhei Yamada, Kazuyuki Sugahara, Naomichi Matsumoto

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98 Citations (Scopus)

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Medicine & Life Sciences