A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta
Masaki Takagi(Keio University), Tomonobu Hasegawa(Keio University), Joan C. Marini(Eunice Kennedy Shriver National Institute of Child Health and Human Development), Gen Nishimura(Musashino University), Tomohiro Ishii(Tokyo Metropolitan Children's Medical Center), Aileen M. Barnes(Eunice Kennedy Shriver National Institute of Child Health and Human Development), Ryuji Fukuzawa(International University of Health and Welfare), Mamoru Tanaka(Keio University), MaryAnn Weis(University of Washington), Naoko Amano(Saitama Municipal Hospital), David R. Eyre(University of Washington)
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