Article
Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.
Molecules and cells - 31 May 2016
Nam Soo Hyun, Hong Young Bin, Hyun Young Se, Nam Da Eun, Kwak Geon, Hwang Sun Hee, Choi Byung-Ok, Chung Ki Wha
Abstract excerpt
Inherited peripheral neuropathies (IPN), which are a group of clinically and genetically heterogeneous peripheral nerve disorders including Charcot-Marie-Tooth disease (CMT), exhibit progressive degeneration of muscles in the extremities and loss of sensory function. Over 70 genes have been reported as genetic causatives and the number is still growing. We prepared a targeted gene panel for IPN diagnosis based on...
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