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J-GLOBAL ID：201802274949444270   Reference number：18A0478675

Nonsyndromic Peripheral Pulmonary Artery Stenosis Is Associated With Homozygosity of RNF213 p.Arg4810Lys Regardless of Co-occurrence of Moyamoya Disease

非症候性末梢肺動脈狭窄はもやもや病の同時発生のRNF213p.Arg4810Lys無関係のホモ接合性に関連している【Powered by NICT】

Author (15)： Chang Sung-A (Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Song Ju Sun (Departments of Laboratory Medicine and Genetics, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Park Taek Kyu (Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Yang Jeong Hoon (Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Kwon Woo Chan (Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Kim So Ree (Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Kim Sung Mok (Departments of Radiology, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Cha Jihoon (Departments of Radiology, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Jang Shin Yi (Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Cho Young Seok (Departments of Nuclear Medicine and Molecular Imaging, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Kim Tae Jung (Departments of Radiology, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Bang Oh Young (Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Song Jin Young (Departments of Pediatrics, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Ki Chang-Seok (Departments of Laboratory Medicine and Genetics, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea) ,  Kim Duk-Kyung (Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea)
Material： Chest
Volume： 153  Issue： 2  Page： 404-413  Publication year： 2018 
JST Material Number： D0800B  ISSN： 0012-3692  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Peripheral pulmonary arterial ...

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Thesaurus term： Heredity ,  pulmonary hypertension ,  child ,  pathogenesis ,  *Pulmonary Artery ,  *artery ,  *stenosis ,  adult (person) ,  patient ,  *Moyamoya Disease ,  *pulmonary stenosis ,  Cranium ,  Genetic Variation
Semi thesaurus term： variation(biology) ,  臨床的特徴 ,  発症 , 【Automatic Indexing@JST】

Author keywords (4)： homozygote ,  Moyamoya disease ,  peripheral pulmonary arterial stenosis ,  pulmonary hypertension

JST classification (4)： Clinical medicine on cardiovascular system in general  (GJ01030V) ,  Dogs,cats  (FD06010P) ,  Other animal diseases  (FE02060T) ,  Cryptogenic diseases,other diseases in general  (GD07010X)

Terms in the title (5)： 症候 ,  肺動脈狭窄 ,  もやもや病 ,  同時発生 ,  ホモ接合性