Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C

Am J Med Genet A. 2016 Sep;170(9):2486-9. doi: 10.1002/ajmg.a.37794. Epub 2016 Jun 8.

¹ Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
² Department of Pediatrics, Kasturba Medical College, Manipal University, Mangalore, Karnataka, India.
³ Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India.
⁴ Centogene AG, Rostock, Mecklenburg-Vorpommern, Germany.
⁵ Department of Pathology, Kasturba Medical College, Manipal University, Mangalore, Karnataka, India.
⁶ Albrecht-Kossel-Institute for Neuroregeneration, Medical University Rostock, Rostock, Mecklenburg-Vorpommern, Germany.
⁷ Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.

No abstract available

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