Article
Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries.
Gene - 10 Feb 2014
Nouri Narges, Fazel-Najafabadi Esmat, Behnam Mahdieh, Nouri Nayereh, Aryani Omid, Ghasemi Majid, Nasiri Jafar, Sedghi Maryam
Abstract excerpt
DMD gene which is composed of 79 exons is the largest known gene located on X chromosome (Xp21). Point mutations in the dystrophin gene are responsible for 30-35% of cases with DMD/BMD. Mutation analysis of all the exons of the DMD gene is costly in developing countries, therefore, a few of the exons are selected to be analyzed routinely in clinical laboratories. In this study, direct sequencing was used for...
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