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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Опубликовано в: :BMC Med Genet
Главные авторы: Deepha, Sekar, Vengalil, Seena, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Nalini, Atchayaram, Gayathri, Narayanappa, Purushottam, Meera
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2017
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5470271/
https://ncbi.nlm.nih.gov/pubmed/28610567
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0431-6
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