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J-GLOBAL ID：201802252618142138   Reference number：18A1494915

Diagnostic targets and exosome sequence analysis of Diamond-Blackfan anemia in Japan

本邦におけるDiamond-Blackfan貧血の診断的ターゲットおよびエクソームシーケンス解析

Author (2)： TOKI TSUTOMU (弘前大学大学院医学研究科 小児科学講座) ,  ITO ETSURO (弘前大学大学院医学研究科 小児科学講座)
Material： 臨床血液  (Japanese Journal of Clinical Hematology)
Volume： 59  Issue： 7  Page： 945-952(J-STAGE)  Publication year： 2018 
JST Material Number： Z0688A  ISSN： 0485-1439  Document type： Article
Article type： 解説  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： *Anemia, Diamond-Blackfan ,...

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Author keywords (6)： Diamond-Blackfan anemia ,  Ribosomal protein ,  Exome sequencing ,  Diamond-Blackfan anemia ,  Ribosomal protein ,  Exome sequencing

JST classification (3)： Congenital diseases,deformities in general.  (GD03010V) ,  Hematologic diseases  (GK03000F) ,  Molecular genetics in general  (EC02010J)

Reference (49)：

• 1) Diamond LK, Blackfan K. Hypoplastic anemia. Am J Dis Child. 1938; 56: 464-467.
• 2) Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC. Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. Br J Haematol. 1996; 94: 645-653.
• 3) Willig TN, Niemeyer CM, Leblanc T, et al; Société d’Hématologie et d’Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologie und Hämatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of. Pediatr Res. 1999; 46: 553-561.
• 4) Landowski M, O’Donohue MF, Buros C, et al. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet. 2013; 132: 1265-1274.
• 5) Vlachos A, Ball S, Dahl N, et al; Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008; 142: 859-876.

Terms in the title (5)： Diamond-Blackfan貧血 ,  診断 ,  ターゲット ,  エクソーム ,  シーケンス解析