Aberrant Splicing in GJB1 and the Relevance of 5′ UTR in CMTX1 Pathogenesis

The second most common form of Charcot-Marie-Tooth disease (CMT) follows an X-linked dominant inheritance pattern (CMTX1), referring to mutations in the gap junction protein beta 1 gene (GJB1) that affect connexin 32 protein (Cx32) and its ability to form gap junctions in the myelin sheath of periph...

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Detalles Bibliográficos
Autores principales: Boso, Federica, Taioli, Federica, Cabrini, Ilaria, Cavallaro, Tiziana, Fabrizi, Gian Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7824018/
https://www.ncbi.nlm.nih.gov/pubmed/33375465
http://dx.doi.org/10.3390/brainsci11010024

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7824018/
https://www.ncbi.nlm.nih.gov/pubmed/33375465
http://dx.doi.org/10.3390/brainsci11010024

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