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; Katta Mohan Girisha

doi:10.1002/ajmg.a.37794

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
, Katta Mohan Girisha^*

^*Corresponding author for this work

Research output: Contribution to journal › Letter › peer-review

5 Citations (Scopus)

Original language	English
Pages (from-to)	2486-2489
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	170
Issue number	9
DOIs	https://doi.org/10.1002/ajmg.a.37794
Publication status	Published - 01-09-2016

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

Access to Document

10.1002/ajmg.a.37794

Cite this

Hebbar, M., Prasada L, H., Bhowmik, A. D., Trujillano, D., Shukla, A., Chakraborti, S., Kandaswamy, K. K., Rolfs, A., Kamath, N., Dalal, A., Bielas, S., & Girisha, K. M. (2016). Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C. American Journal of Medical Genetics, Part A, 170(9), 2486-2489. https://doi.org/10.1002/ajmg.a.37794

@article{dfa192be2885415c898ee8235b2f6c2b,

title = "Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C",

author = "Malavika Hebbar and \{Prasada L\}, Harsha and Bhowmik, \{Aneek Das\} and Daniel Trujillano and Anju Shukla and Shrijeet Chakraborti and Kandaswamy, \{Krishna Kumar\} and Arndt Rolfs and Nutan Kamath and Ashwin Dalal and Stephanie Bielas and Girisha, \{Katta Mohan\}",

year = "2016",

month = sep,

day = "1",

doi = "10.1002/ajmg.a.37794",

language = "English",

volume = "170",

pages = "2486--2489",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "John Wiley and Sons Inc.",

number = "9",

}

TY - JOUR

T1 - Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

AU - Hebbar, Malavika

AU - Prasada L, Harsha

AU - Bhowmik, Aneek Das

AU - Trujillano, Daniel

AU - Shukla, Anju

AU - Chakraborti, Shrijeet

AU - Kandaswamy, Krishna Kumar

AU - Rolfs, Arndt

AU - Kamath, Nutan

AU - Dalal, Ashwin

AU - Bielas, Stephanie

AU - Girisha, Katta Mohan

PY - 2016/9/1

Y1 - 2016/9/1

UR - https://www.scopus.com/pages/publications/84974827616

UR - https://www.scopus.com/pages/publications/84974827616#tab=citedBy

U2 - 10.1002/ajmg.a.37794

DO - 10.1002/ajmg.a.37794

M3 - Letter

AN - SCOPUS:84974827616

SN - 1552-4825

VL - 170

SP - 2486

EP - 2489

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 9

ER -

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

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Cite this