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MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India
BACKGROUND: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict the effect of gene mutations on the dystrophin protein and study its impact on clinical phenotype. METHODS: In...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470271/ https://www.ncbi.nlm.nih.gov/pubmed/28610567 http://dx.doi.org/10.1186/s12881-017-0431-6 |