Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype...
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum
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Publisher
Tehran: Academy of Medical Sciences of I.R. Iran
Journal title
Language
English
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Publisher
Tehran: Academy of Medical Sciences of I.R. Iran
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Contents
Background:
Inherited peripheral neuropathies (IPNs) are a group of neuropathies affecting peripheral motor and sensory neurons. Charcot-Marie-Tooth (CMT) disease is the most common disease in this group. With recent advances in next-generation sequencing (NGS) technologies, more than 100 genes have been implicated for different types of CMT and...
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Full title
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum
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TN_cdi_proquest_journals_2495391721
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2495391721
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ISSN
1029-2977
E-ISSN
1735-3947
DOI
10.34172/aim.2020.39
