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Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre.

Acta dermato-venereologica - 10 Oct 2018

Yenamandra Vamsi K, Vellarikkal Shamsudheen K, Chowdhury Madhumita R, Jayarajan Rijith, Verma Ankit, Scaria Vinod, Sivasubbu Sridhar, Ray Subrata Basu, Dinda Amit K, Kabra Madhulika, Sharma Vinod K, Sethuraman Gomathy

Abstract excerpt

Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing as a rapid and efficient diagnostic strategy in several genodermatoses. The aim of this study was to explore the potential of molecular studies in dystrophic epidermolysis bullosa (DEB) in India. Whole exome sequencing was performed using genomic DNA from each case of epidermolysis bullosa, followed by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 29963685
DOI: 10.2340/00015555-2929

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