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首页> 外文期刊>Clinical Chemistry: Journal of the American Association for Clinical Chemists >Muscular Dystrophy: Methods and Protocols. Katherine M.D. Bushby and Louise V.B. Anderson, eds. Totowa, NJ: Humana Press, 2001, 436 pp., $99.50, hardcover. ISBN 0-89603-695-2.
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Muscular Dystrophy: Methods and Protocols. Katherine M.D. Bushby and Louise V.B. Anderson, eds. Totowa, NJ: Humana Press, 2001, 436 pp., $99.50, hardcover. ISBN 0-89603-695-2.

机译:肌营养不良症:方法和协议。凯瑟琳·M·D·布什比和路易丝·V·B。安德森(Anderson)编辑。新泽西州Totowa:Humana出版社,2001年,436页,99.50美元,精装书。 ISBN 0-89603-695-2。

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摘要

My research interest, in the field of Duchenne muscular dystrophy (DMD), began ~18 years ago. At the time, the DMD gene had not been identified, and our primary diagnostic tools were restriction fragment length polymorphism probes and creatine kinase measurements. This book is a tribute to the great progress that has been made since that time. Several of the authors have been major players in making it all possible. It is remarkable to observe how many of the scientific discoveries have had immediate impact on molecular testing and thus have benefited many families through more accurate diagnoses and counseling. …
机译:我对Duchenne肌营养不良症(DMD)领域的研究兴趣始于大约18年前。当时,尚未鉴定DMD基因,而我们的主要诊断工具是限制性片段长度多态性探针和肌酸激酶测量。这本书是对自那时以来取得的巨大进步的致敬。有几位作者在使这一切成为可能方面发挥了主要作用。值得注意的是,有多少科学发现对分子检测产生了直接影响,从而通过更准确的诊断和咨询使许多家庭受益。 …

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