Aberrant Splicing in <i>GJB1</i> 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 (<i>GJB1</i>) that affect connexin 32 protein (Cx32) and its ability to form gap junctions in the myelin sheath of...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI AG
2020-12-01
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| Col·lecció: | Brain Sciences |
| Matèries: | |
| Accés en línia: | https://www.mdpi.com/2076-3425/11/1/24 |
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