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A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia
BACKGROUND: The etiology and pathogenesis of idiopathic dystonia remain obscure. Recent studies revealed that compound heterozygous mutations in collagen type VI alpha-3 gene COL6A3 may cause recessive isolated dystonia (DYT)-27. However, whether COL6A3 mutations are associated with Chinese patients...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10110855/ https://www.ncbi.nlm.nih.gov/pubmed/37082441 http://dx.doi.org/10.3389/fneur.2023.1105760 |