| 书目名称 | Uniparental Disomy (UPD) in Clinical Genetics |
| 副标题 | A Guide for Clinicia |
| 编辑 | Thomas Liehr |
| 视频video | http://file.papertrans.cn/943/942089/942089.mp4 |
| 概述 | First book on this topic.The author is a leading expert in the field and his laboratory is collecting all published cases.Written in collaboration with a family support group.With numerous patient rep |
| 图书封面 |  |
| 描述 | .This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed..Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.. |
| 出版日期 | Book 2014 |
| 关键词 | Chromosomal aberration; Chromosomal disorder; Genetic counseling; Genotype-phenotype correlation; Rare g |
| 版次 | 1 |
| doi | https://doi.org/10.1007/978-3-642-55288-5 |
| isbn_softcover | 978-3-662-51114-5 |
| isbn_ebook | 978-3-642-55288-5 |
| copyright | Springer-Verlag Berlin Heidelberg 2014 |
|Archiver|手机版|小黑屋|
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