Utility of whole-exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India—implications for diagnosis, prognosis, and prenatal testing - 03/08/18
Rahul Mahajan, MD, Postgraduate Institute of Medical Education and Research, Chandigarh; Shamsudheen Vellarikkal, PhD, CSIR Institute of Genomics and Integrative Biology, Delhi; Sanjeev Handa, MD, Postgraduate Institute of Medical Education and Research, Chandigarh; Rijith Jayarajan, PhD, CSIR Institute of Genomics and Integrative Biology, Delhi; Dipankar De, MD, Postgraduate Institute of Medical Education and Research; Jaswinder Kalra, MD, Postgraduate Institute of Medical Education and Research, Chandigarh; Inusha Panigrahi, MD, Postgraduate Institute of Medical Education and Research; Ashwin Dalal, MD, Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics; Sridhar Sivasubbu, PhD, CSIR Institute of Genomics and Integrative Biology; Vinod Scaria, MBBS, PhD, CSIR Institute of Genomics and Integrative Biology, Delhi
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Vol 79 - N° 3S1
P. AB310 - septembre 2018 Retour au numéro
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