| 书目名称 | Pediatric Hematology | | 副标题 | Methods and Protocol | | 编辑 | Nicholas J. Goulden,Colin G. Steward | | 视频video | | | 丛书名称 | Methods in Molecular Medicine | | 图书封面 |  | | 描述 | Much of the progress in the diagnosis, classification, and treatment of childhood hematological disorders has come from a partnership between clinicians and scientists. Indeed, access to molecular techniques is now an integral part of the practice of modern pediatric hematology. The aim of Pediatric Hematology: Methods and Protocols is to provide a collection of scientific protocols that cover the major aspects of the discipline. Most clinicians will be familiar with the difficulties inherent in establishing the underlying diagnosis in genetic marrow failure syndromes. A particular concern is failure to diagnose those associated with DNA repair defects. In Chapter 1, Dokal and colleagues present simple protocols for the molecular investigation of Fanconi anemia and dyskeratosis congenita. Molecular diagnosis is also important in children with congenital pure red cell aplasia, owing to the highly variable phenotype of this condition. In Chapter 2, Ball describes relevant protocols for the investigation of Diamond–Blackfan anemia. Hereditary hemoglobinopathy is a major cause of death and morbidity throughout the world. This area has seen great advances in screening and antenatal diag | | 出版日期 | Book 2004 | | 版次 | 1 | | doi | https://doi.org/10.1385/1592594336 | | isbn_softcover | 978-1-4899-3924-1 | | isbn_ebook | 978-1-59259-433-7Series ISSN 1543-1894 Series E-ISSN 1940-6037 | | issn_series | 1543-1894 | | copyright | Springer Science+Business Media New York 2004 |
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发表于 2025-3-21 18:10:06
