One PMP22/MPZ and three MFN2/GDAP1 concomitant variants occurred in a cohort of 189 Chinese Charcot-Marie-Tooth families
收藏DataCite Commons2022-01-04 更新2024-08-18 收录
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https://figshare.com/articles/dataset/One_PMP22_MPZ_and_three_MFN2_GDAP1_concomitant_variants_occurred_in_a_cohort_of_189_Chinese_Charcot-Marie-Tooth_families/17192927/1
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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：
2022-01-04
