Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia
Yuichiro Hirose(RIKEN), Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), Hirofumi Ohashi(Aichi Medical University), Masanori Adachi(Kanagawa Children's Medical Center), Gen Nishimura(Musashino University), Yuki Bando(Kitasato University), Hiroshi Mochizuki(Saitama Children's Medical Center), Emi Toba(Tokyo Metropolitan Children's Medical Center), Eiji Nakashima(RIKEN), Tsutomu Ogata(Hamamatsu University School of Medicine)
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