Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing

Inherited peripheral neuropathies (IPNs) are a group of related diseases primarily affecting the peripheral motor and sensory neurons. They include the hereditary sensory neuropathies (HSN), hereditary motor neuropathies (HMN), and Charcot-Marie-Tooth disease (CMT). Using whole-exome sequencing (WES...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Drew, Alexander P, Zhu, Danqing, Kidambi, Aditi, Ly, Carolyn, Tey, Shelisa, Brewer, Megan H, Ahmad-Annuar, Azlina, Nicholson, Garth A, Kennerson, Marina L
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2015
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4367087/
https://ncbi.nlm.nih.gov/pubmed/25802885
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.126
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