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Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C
Author(s) -
Hebbar Malavika,
Prasada L Harsha,
Bhowmik Aneek Das,
Trujillano Daniel,
Shukla Anju,
Chakraborti Shrijeet,
Kandaswamy Krishna Kumar,
Rolfs Arndt,
Kamath Nutan,
Dalal Ashwin,
Bielas Stephanie,
Girisha Katta Mohan
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37794
Subject(s) - exon , genetics , niemann–pick disease, type c , type (biology) , disease , biology , medicine , gene , ecology
Homozygous Deletion of Exons 2 and 3 of NPC2 Associated with Niemann–Pick Disease Type C Malavika Hebbar, Harsha Prasada L, Aneek Das Bhowmik, Daniel Trujillano, Anju Shukla, Shrijeet Chakraborti, Krishna Kumar Kandaswamy, Arndt Rolfs, Nutan Kamath, Ashwin Dalal, Stephanie Bielas, and Katta Mohan Girisha* Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India Department of Pediatrics, Kasturba Medical College, Manipal University, Mangalore, Karnataka, India Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India Centogene AG, Rostock, Mecklenburg-Vorpommern, Germany Department of Pathology, Kasturba Medical College, Manipal University, Mangalore, Karnataka, India Albrecht-Kossel-Institute for Neuroregeneration, Medical University Rostock, Rostock, Mecklenburg-Vorpommern, Germany Department of Human Genetics, University of Michigan, Ann Arbor, Michigan