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...

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Detalles Bibliográficos
Autores principales: Deepha, Sekar, Vengalil, Seena, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Nalini, Atchayaram, Gayathri, Narayanappa, Purushottam, Meera
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
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

Internet

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

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