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J-GLOBAL ID：201102230836686212   整理番号：11A1856216

GPATCH8の突然変異に関連する骨形成不全症と同時分離する高尿酸血症

Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8

著者 (10件)： KANEKO Hiroshi (Nagoya Univ. Graduate School of Medicine, Div. of Neurogenetics, Center for Neurological Diseases and Cancer, 65 ...) ,  KANEKO Hiroshi (Nagoya Univ. Graduate School of Medicine, Dep. of Orthopaedic Surgery, Nagoya, JPN) ,  KITOH Hiroshi (Nagoya Univ. Graduate School of Medicine, Dep. of Orthopaedic Surgery, Nagoya, JPN) ,  MATSUURA Tohru (Nagoya Univ. Graduate School of Medicine, Div. of Neurogenetics, Center for Neurological Diseases and Cancer, 65 ...) ,  MASUDA Akio (Nagoya Univ. Graduate School of Medicine, Div. of Neurogenetics, Center for Neurological Diseases and Cancer, 65 ...) ,  ITO Mikako (Nagoya Univ. Graduate School of Medicine, Div. of Neurogenetics, Center for Neurological Diseases and Cancer, 65 ...) ,  MOTTES Monica (Univ. of Verona, Dep. of Life and Reproduction Sciences, Verona, ITA) ,  RAUCH Frank (Shriners Hospital for Children and McGill Univ., Genetics Unit, Montreal, QC, CAN) ,  ISHIGURO Naoki (Nagoya Univ. Graduate School of Medicine, Dep. of Orthopaedic Surgery, Nagoya, JPN) ,  OHNO Kinji (Nagoya Univ. Graduate School of Medicine, Div. of Neurogenetics, Center for Neurological Diseases and Cancer, 65 ...)
資料名： Human Genetics  (Human Genetics)
巻： 130  号： 5  ページ： 671-683  発行年： 2011年11月 
JST資料番号： E0781B  ISSN： 0340-6717  CODEN： HUGEDQ  資料種別： 逐次刊行物 (A)
発行国： ドイツ (DEU)  言語： 英語 (EN)

タイトルに関連する用語 (3件)： 突然変異 ,  骨形成不全症 ,  高尿酸血症