Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
Hebbar M, Prasada L H, Bhowmik AD, Trujillano D, Shukla A, Chakraborti S, Kandaswamy KK, Rolfs A, Kamath N, Dalal A, Bielas S, Girisha KM.
Hebbar M, et al. Among authors: chakraborti s.
Am J Med Genet A. 2016 Sep;170(9):2486-9. doi: 10.1002/ajmg.a.37794. Epub 2016 Jun 8.
Am J Med Genet A. 2016.
PMID: 27271431
Free PMC article.
No abstract available.