Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
Neha Agrawal, Gaurav Verma, Deepti Saxena, Madhulika Kabra, Neerja Gupta, Kausik Mandal, Amita Moirangthem, Jayesh Sheth, Ratna Dua Puri, Sunita Bijarnia‐Mahay, Seema Kapoor, Sumita Danda, Sankar V.H., Chaitanya Datar, Prajnya Ranganath, Anju Shukla, Ashwin Dalal, Priyanka Srivastava, Radha Rama Devi, Shubha R. Phadke
Topics & Concepts
Sanger sequencingMultiplex ligation-dependent probe amplificationGeneticsBiologyMacrocephalyGenotypeBioinformaticsExonGeneDNA sequencingLysosomal Storage Disorders ResearchCellular transport and secretionGenomics and Rare Diseases