MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

Abstract 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. Meth...

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Bibliographic Details
Main Authors: Sekar Deepha, Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Atchayaram Nalini, Narayanappa Gayathri, Meera Purushottam
Format: Article
Language:English
Published: BMC 2017-06-01
Series:BMC Medical Genetics
Subjects:
DMD
MLPA
PROVEAN
Hydrophobicity profile
eDystrophin
Online Access:http://link.springer.com/article/10.1186/s12881-017-0431-6

Internet

http://link.springer.com/article/10.1186/s12881-017-0431-6

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