A recurrent mutation in the 5′‐UTR of IFITM5 causes osteogenesis imperfecta type V
A recurrent mutation in the 5′‐UTR of IFITM5 causes osteogenesis imperfecta type V
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IFITM5 5-UTR 的反复突变导致 V 型成骨不全症
DOI：
10.1002/ajmg.a.36025
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发表时间：
2013
影响因子：
2
通讯作者：
T. Hasegawa
中科院分区：
文献类型：
--
作者：
M. Takagi;Shuhei Sato;K. Hara;Chihiro Tani;O. Miyazaki;G. Nishimura;T. Hasegawa
IFITM 5的50-UTR中的复发性突变导致成骨不全V型Masaki Takagi，Shuhei Sato，Keiichi Hara，Chihiro Tani，Osamu宫崎，Gen Nishimura，和Tomonobu Hasegawa* 日本东京庆应义塾大学医学部儿科，东京都立儿童医疗中心，东京，日本青森县中央医院围产期医疗中心，青森，日本广岛吴医疗中心儿科日本广岛广岛市立医院放射科日本东京国立儿童健康与发育中心放射科日本东京都儿童医疗中心放射科日本东京
A Recurrent Mutation in the 50-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V Masaki Takagi, Shuhei Sato, Keiichi Hara, Chihiro Tani, Osamu Miyazaki, Gen Nishimura, and Tomonobu Hasegawa* Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan Perinatal Medical Center of Aomori Prefectural Central Hospital, Aomori, Japan Department of Pediatrics, Kure Medical Center, Hiroshima, Japan Department of Radiology, Hiroshima City Hospital, Hiroshima, Japan Department of Radiology, National Center for Child Health and Development, Tokyo, Japan Department of Radiology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan