A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.

Masaki Takagi, Tomohiro Ishii, Aileen M. Barnes, Maryann Weis, Naoko Amano, Mamoru Tanaka, Ryuji Fukuzawa, Gen Nishimura, David R. Eyre, Joan C. Marini, Tomonobu Hasegawa

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