Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia
Akihiko Mabuchi(The University of Tokyo), Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), Gen Nishimura(Musashino University), Hisatada Hiraoka(University of Tokyo Hospital), Koichi Maeda(National Archives and Records Administration), Hiroshi Kitoh(Nagoya University), Noriyo Manabe(University of Tokyo Hospital), Nobuhiko Haga(Boston Children's Hospital), Hirofumi Ohashi(Aichi Medical University), Eiji Nakashima(RIKEN), Rika Kosaki(National Center For Child Health and Development)
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