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Causative variant profile of collagen VI-related dystrophy in Japan
BACKGROUND: Collagen VI-related dystrophy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy. This disease is caused by causative variants in COL6A1, COL6A2, or COL6A3. Most reported causative variants are de novo; therefore, to identify possible...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8223365/ https://ncbi.nlm.nih.gov/pubmed/34167565 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01921-2 |
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