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Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family
BACKGROUND: Variable disease phenotypes can be influenced by several factors such as allelic variation, environmental factors, genetic modifiers, and genotype–environment interaction. Herein to the best of our knowledge, this is the first report of the coexistence of DMD and RNF213 gene mutations in...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732268/ https://www.ncbi.nlm.nih.gov/pubmed/31347299 http://dx.doi.org/10.1002/mgg3.862 |