Art

J-GLOBAL ID：201102230836686212   Reference number：11A1856216

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

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

Author (10)： 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 ...)
Material： Human Genetics
Volume： 130  Issue： 5  Page： 671-683  Publication year： Nov. 2011 
JST Material Number： E0781B  ISSN： 0340-6717  CODEN： HUGEDQ  Document type： Article
Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Terms in the title (3)： 突然変異 ,  骨形成不全症 ,  高尿酸血症