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^*

^*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلة › Letter › مراجعة النظراء

5 اقتباسات (Scopus)

اللغة الأصلية	English
الصفحات (من إلى)	2486-2489
عدد الصفحات	4
دورية	American Journal of Medical Genetics, Part A
مستوى الصوت	170
رقم الإصدار	9
المعرِّفات الرقمية للأشياء	https://doi.org/10.1002/ajmg.a.37794
حالة النشر	Published - سبتمبر 1 2016
منشور خارجيًا	نعم

ASJC Scopus subject areas

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الوصول إلى المستند

10.1002/ajmg.a.37794

الملفات والروابط الأخرى

قم بذكر هذا

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

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C. / Hebbar, Malavika; Prasada L, Harsha; Bhowmik, Aneek Das وآخرون.
في: American Journal of Medical Genetics, Part A, المجلد 170, رقم 9, ٠١.٠٩.٢٠١٦, صفحة 2486-2489.

نتاج البحث: المساهمة في مجلة › Letter › مراجعة النظراء

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 2016, 'Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C', American Journal of Medical Genetics, Part A, المجلد 170, رقم 9, الصفحات 2486-2489. https://doi.org/10.1002/ajmg.a.37794

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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}",

note = "Funding Information: We thank the family who cooperated with evaluation of the child and consented for participation in this study. The National Institutes of Health funded the project titled “Genetic Diagnosis of Heritable Neurodevelopmental Disorders in India: Investigating the Use of Whole Exome Sequencing and Genetic Counseling to Address the High Burden of Neurodevelopmental Disorders” (GRANT11808979).",

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

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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

N1 - Funding Information: We thank the family who cooperated with evaluation of the child and consented for participation in this study. The National Institutes of Health funded the project titled “Genetic Diagnosis of Heritable Neurodevelopmental Disorders in India: Investigating the Use of Whole Exome Sequencing and Genetic Counseling to Address the High Burden of Neurodevelopmental Disorders” (GRANT11808979).

PY - 2016/9/1

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DO - 10.1002/ajmg.a.37794

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AN - SCOPUS:84974827616

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

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