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Regulating PMP22 Expression as a Dosage Sensitive Neuropathy Gene

Structural variation in the human genome has emerged as a major cause of disease as genomic data have accumulated. One of the most common structural variants associated with human disease causes the heritable neuropathy known as Charcot-Marie-Tooth (CMT) disease type 1A. This 1.4 Mb duplication caus...

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Bibliografski detalji
Izdano u:Brain Res
Glavni autori: Pantera, Harrison, Shy, Michael E., Svaren, John
Format: Artigo
Jezik:Inglês
Izdano: 2019
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7006452/
https://ncbi.nlm.nih.gov/pubmed/31586623
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.brainres.2019.146491
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