Study

Research Study into The Molecular Genetics of Hereditary Neuropathies

Study ID Alternative Stable ID Type
phs001351 Case Set

Study Description

Identification of genes implicated in inherited neuropathy through collecting and sequencing multiple generation families with inherited neuropathy. Patients in this study have been evaluated for demyelinating peripheral neuropathy as determined by decreased motor nerve conduction velocities in the sural nerve. Patients have also been screened for mutations in all genes implicated in demyelinating peripheral neuropathy and are expected to have previously unidentified mutations.

Exome (WES) sequencing for two patients affected with inherited neuropathy. VCF files with called variants for each de-identified patient have been submitted.

Archive Link Archive Accession
dbGaP phs001351

Who archives the data?

There are no publications available