| A Novel Mutation of Ribosomal Protein S10 Gene in a Japanese Patient With Diamond-Blackfan Anemia. | |
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MedLine Citation:
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PMID: 22510774 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Diamond-Blackfan anemia (DBA) is an inherited bone marrow disease. The condition is characterized by anemia that usually presents during infancy or early childhood and congenital malformation. Several reports show that DBA is associated with mutations in the ribosomal protein (RP) genes, RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, and RPS7. Recently, 5 and 12 patients with mutations in RPS10 and RPS26, respectively, were identified in a cohort of 117 DBA probands. Therefore, we screened the DBA patients who were negative for mutations in these DBA genes for mutations in RPS10 and RPS26. The present case report describes the identification of the first Japanese DBA patient with a novel mutation in RPS10. |
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Authors:
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Makoto Yazaki; Michi Kamei; Yasuhiko Ito; Yuki Konno; Runan Wang; Tsutomu Toki; Etsuro Ito |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-4-16 |
Journal Detail:
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Title: Journal of pediatric hematology/oncology Volume: - ISSN: 1536-3678 ISO Abbreviation: - Publication Date: 2012 Apr |
Date Detail:
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Created Date: 2012-4-18 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9505928 Medline TA: J Pediatr Hematol Oncol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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*Department of Pediatrics, Nagoya City East Medical Center Moriyama Hospital †Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Science, Nagoya ‡Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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