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

Research output: Contribution to journalLetter

3 Citations (Scopus)
Original languageEnglish
Pages (from-to)2486-2489
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number9
DOIs
Publication statusPublished - 01-09-2016

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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. / Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C. In: American Journal of Medical Genetics, Part A. 2016 ; Vol. 170, No. 9. pp. 2486-2489.
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year = "2016",
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Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C. / 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.

In: American Journal of Medical Genetics, Part A, Vol. 170, No. 9, 01.09.2016, p. 2486-2489.

Research output: Contribution to journalLetter

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

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U2 - 10.1002/ajmg.a.37794

DO - 10.1002/ajmg.a.37794

M3 - Letter

VL - 170

SP - 2486

EP - 2489

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 9

ER -