One PMP22/MPZ and three MFN2/GDAP1 concomitant variants occurred in a cohort of 189 Chinese Charcot-Marie-Tooth families
收藏数据链接：
官方服务：
资源简介：
We firstly utilized the application of MLPA (P033 kit, MRC Holland, Netherlands) for the detection of <i>PMP22</i> duplication in CMT1 patients. Inherited peripheral neuropathy multi-gene panel sequencing was further applied in CMT1 patients who failed to achieve molecular diagnosis and in CMT2 patients.
提供机构：
figshare创建时间：
2021-12-13
