Art

J-GLOBAL ID：201902222588751407   Reference number：19A2705890

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta

骨形成不全症の53人の日本人患者における標的化次世代シークエンシングと遺伝子型-表現型相関を用いた包括的遺伝分析【JST・京大機械翻訳】

Author (24)： Ohata Y. (Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan) ,  Takeyari S. (Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan) ,  Nakano Y. (Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan) ,  Kitaoka T. (Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan) ,  Nakayama H. (Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan) ,  Nakayama H. (The Japan Environment and Children’s Study, Osaka Unit Center, Suita, Japan) ,  Bizaoui V. (Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan) ,  Bizaoui V. (Department of Medical Genetics, Reference Center for Skeletal Dysplasia, Hopital Necker - Enfants Malades, Paris, France) ,  Yamamoto K. (Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan) ,  Yamamoto K. (Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan) ,  Miyata K. (Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan) ,  Yamamoto K. (Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan) ,  Yamamoto K. (Department of Pediatrics, National Hospital Organization Osaka National Hospital, Osaka, Japan) ,  Fujiwara M. (Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan) ,  Fujiwara M. (The First Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Japan) ,  Kubota T. (Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan) ,  Michigami T. (Department of Bone and Mineral Research, Osaka Women’s and Children’s Hospital, Izumi, Japan) ,  Yamamoto K. (Department of Pediatric Nephrology and Metabolism, Osaka Women’s and Children’s Hospital, Izumi, Japan) ,  Yamamoto T. (Department of Pediatrics, Minoh City Hospital, Minoh, Japan) ,  Namba N. (Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan) ,  Namba N. (Department of Pediatrics, Osaka Hospital, Japan Community Healthcare Organization (JCHO), Osaka, Japan) ,  Ebina K. (Department of Musculoskeletal Regenerative Medicine, Osaka University Graduate School of Medicine, Suita, Japan) ,  Yoshikawa H. (Department of Orthopaedic Surgery, Osaka University Graduate School of Medicine, Suita, Japan) ,  Ozono K. (Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan)
Material： Osteoporosis International
Volume： 30  Issue： 11  Page： 2333-2342  Publication year： 2019 
JST Material Number： W4824A  ISSN： 0937-941X  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Abstract/Point： To elucidate mutation spectrum...

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Thesaurus term： pathogenicity ,  *genotype ,  *gene ,  panel ,  mutation ,  *phenotype ,  *targeting ,  amino acid ,  aliphatic amine ,  aliphatic carboxylic acid
Semi thesaurus term： *表現型相関 ,  スコア ,  候補遺伝子 ,  突然変異スペクトル ,  *遺伝子解析 ,  *次世代シークエンシング ,  *日本人 , 【Automatic Indexing@JST】

Author keywords (6)： Fracture ,  Genotype-phenotype correlation ,  Next-generation sequencing ,  Osteogenesis imperfecta ,  Short stature ,  Type I collagen

JST classification (4)： Treatment for metabolic diseases,nutritional diseases.  (GD05030F) ,  Research methods in genetics  (EC01020N) ,  Molecular genetics in general  (EC02010J) ,  Drug therapy(=pharmacotherapy)for musculoskeletal diseases  (GG05020D)

Substance index (1)： Glycine

Terms in the title (7)： 骨形成不全症 ,  日本人 ,  患者 ,  標的化 ,  次世代シークエンシング ,  遺伝子型-表現型相関 ,  遺伝分析