无义突变
错义突变
外显子
肌营养不良蛋白
杜氏肌营养不良
遗传学
基因组DNA
突变
生物
基因
基因突变
分子生物学
作者
Jerry R. Mendell,Carolyn H. Buzin,Jinong Feng,Yan Jin,Carmen Serrano,Dhruvee Sangani,Cheryl Wall,Thomas W. Prior,Steve S. Sommer
出处
期刊:Neurology
[Lippincott Williams & Wilkins]
日期:2001-08-28
卷期号:57 (4): 645-650
被引量:137
摘要
A highly sensitive single-strand conformation polymorphism method substantially increased detection of small dystrophin gene mutations and made it possible to diagnose approximately 90% of patients with Duchenne dystrophy by DNA analysis. These findings, combined with cost savings and safety issues, provide compelling reasons to consider DNA analysis as the initial diagnostic test for the suspected dystrophin-deficient patient.
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