杜氏肌营养不良
医学
肌营养不良
遗传学
载波测试
突变试验
突变率
系谱图
突变
生物
遗传咨询
肌营养不良蛋白
产前诊断
基因
怀孕
胎儿
作者
Peter J. Taylor,Sarah Maroulis,Glenda Mullan,Robyn L. Pedersen,A. Baumli,George Elakis,S Piras,Christopher A. Walsh,B. Prosper-Gutierrez,F. De La Puente-Alonso,Christopher G. Bell,David Mowat,Mark Johnston,Michael F. Buckley
标识
DOI:10.1136/jmg.2006.047464
摘要
There are significant clinical benefits to be gained from a combined mutation detection protocol for carrier detection. It is recommended that mutation-specific carrier frequencies for the different classes of dystrophin mutations should be taken into account in genetic counselling practice.
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