书目名称 | Genetic Analysis of the X Chromosome | 副标题 | Studies of Duchenne | 编辑 | Henry F. Epstein,Stewart Wolf | 视频video | | 丛书名称 | Advances in Experimental Medicine and Biology | 图书封面 |  | 描述 | The present volume contains the edited transcript of a collo quium sponsored by the Muscular Dystrophy Association and held at Mountain Shadows Inn, Scottsdale, Arizona, December 14-16, 1981. The participants, geneticists, molecular biologists, bio chemists and clinicians, explored in open dialogue ways and means of identifying and characterizing the genetic alterations responsible for X-linked muscular dystrophies, especially the Duchenne type. The clinicians, who urged the use of properly diagnosed and documented case material for study, emphasized the troublesome fact that the primary phenotypic expression of the gene (or genes) involved in the muscular dystrophies is yet to be identified. Discussions centered on the applicability of recent methodol ogical advances in DNA chemistry and molecular biology, cytogenetics and cell biology to mapping the X chromosome. Despite ignorance of the basic disorder in the muscular dystrophies, DNA technologies and chromosome mapping strategies for the discovery of genetic defects and phenotypic expressions were proposed. Beyond its stimulating intellectual exchange, the colloquium yielded important benefits. The participants agreed to shar | 出版日期 | Book 1982 | 关键词 | DNA; biology; cell biology; chemistry; chromosome; cytogenetics; enzymes; genes; genetics; molecular biology | 版次 | 1 | doi | https://doi.org/10.1007/978-1-4684-4346-2 | isbn_softcover | 978-1-4684-4348-6 | isbn_ebook | 978-1-4684-4346-2Series ISSN 0065-2598 Series E-ISSN 2214-8019 | issn_series | 0065-2598 | copyright | The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Science+Busines |
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