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Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer

Peripheral nerve myelination is adversely affected in the most common form of the hereditary peripheral neuropathy called Charcot-Marie-Tooth Disease. This form, classified as CMT1A, is caused by a 1.4 Mb duplication on chromosome 17, which includes the abundantly expressed Schwann cell myelin gene,...

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Библиографические подробности
Опубликовано в: :Hum Mol Genet
Главные авторы: Pantera, Harrison, Moran, John J, Hung, Holly A, Pak, Evgenia, Dutra, Amalia, Svaren, John
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2018
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6077802/
https://ncbi.nlm.nih.gov/pubmed/29771329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy191
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