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资源简介：
Upstream regulators in benign CMTs.
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创建时间：
2018-12-05
相关数据集
dataset related to article "Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations"
dataset contains Sanger electropherograms of the HSPB1 p.S135F and p.R136L mutations
NIAID Data Ecosystem50
Sensory nerve conduction properties of the sural nerve of the IEM patient carrying the Nav1.8/M650K mutation.
Sensory nerve conduction properties of the sural nerve of the IEM patient carrying the Nav1.8/M650K mutation.
Figshare2016-09-07 更新20
Table_2_X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels.XLSX
Connexin32 (Cx32) is expressed in myelinating Schwann cells. It forms both reflexive gap junctions, to facilitate transfer of molecules from the outer to the inner myelin layers and hemichannels at th
NIAID Data Ecosystem20
Additional file 1: Table S1. of Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
Clearly Pathogenic Variants (Class 5) (XLSX 18Â kb)
DataCite Commons2024-12-13 更新30
AAV-mediated genome editing to normalize PMP22 gene duplication responsible for Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1A (CMT1A) is one of the most common hereditary peripheral neuropathies, for which there exists no radical therapy. In the present study, we developed a method to corr
NIAID Data Ecosystem20
