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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Deepha, Sekar, Vengalil, Seena, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Nalini, Atchayaram, Gayathri, Narayanappa, Purushottam, Meera
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados