Identification of a Novel Hexb Mutation in an Iranian Family With Suspected Patient to Gm2-Gangliosidoses

Identification of a Novel Hexb Mutation in an Iranian Family With Suspected Patient to Gm2-Gangliosidoses Publisher

Mansourimovahed F¹ ; Akhoundi F¹ ; Nikpour P^{2, 3} ; Garshasbi M⁴ ; Emadibaygi M^{1, 5}

Show Affiliations

1. Department of Genetics, Faculty of Basic Sciences, Shahrekord University, Shahrekord, Iran
2. Department of Genetics and Molecular Biology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
3. Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran
4. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
5. Research Institute of Biotechnology, Shahrekord University, Shahrekord, Iran

Source: Clinical Case Reports Published:2020

Abstract

Sandhoff disease is one of the GM2-gangliosidoses which is caused by a mutation in the HEXB preventing the breakdown of GM2-ganglioside. We report a novel HEXB variant in a family with a history of a dead girl with Sandhoff disease which was not found in controls. © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd

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Mohammad Amin Tabatabaiefar (4)

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Style	Citing Format
MLA	Mansourimovahed F, et al.. "Identification of a Novel Hexb Mutation in an Iranian Family With Suspected Patient to Gm2-Gangliosidoses." Clinical Case Reports, vol. 8, no. 12, 2020, pp. 2583-2591.
APA	Mansourimovahed F, Akhoundi F, Nikpour P, Garshasbi M, Emadibaygi M (2020). Identification of a Novel Hexb Mutation in an Iranian Family With Suspected Patient to Gm2-Gangliosidoses. Clinical Case Reports, 8(12), 2583-2591.
Chicago	Mansourimovahed F, Akhoundi F, Nikpour P, Garshasbi M, Emadibaygi M. "Identification of a Novel Hexb Mutation in an Iranian Family With Suspected Patient to Gm2-Gangliosidoses." Clinical Case Reports 8, no. 12 (2020): 2583-2591.
Harvard	Mansourimovahed F et al. (2020) 'Identification of a Novel Hexb Mutation in an Iranian Family With Suspected Patient to Gm2-Gangliosidoses', Clinical Case Reports, 8(12), pp. 2583-2591.
Vancouver	Mansourimovahed F, Akhoundi F, Nikpour P, Garshasbi M, Emadibaygi M. Identification of a Novel Hexb Mutation in an Iranian Family With Suspected Patient to Gm2-Gangliosidoses. Clinical Case Reports. 2020;8(12):2583-2591.
BibTex	@article{ author = {Mansourimovahed F and Akhoundi F and Nikpour P and Garshasbi M and Emadibaygi M}, title = {Identification of a Novel Hexb Mutation in an Iranian Family With Suspected Patient to Gm2-Gangliosidoses}, journal = {Clinical Case Reports}, volume = {8}, number = {12}, pages = {2583-2591}, year = {2020} }
RIS	TY - JOUR AU - Mansourimovahed F AU - Akhoundi F AU - Nikpour P AU - Garshasbi M AU - Emadibaygi M TI - Identification of a Novel Hexb Mutation in an Iranian Family With Suspected Patient to Gm2-Gangliosidoses JO - Clinical Case Reports VL - 8 IS - 12 SP - 2583 EP - 2591 PY - 2020 ER -

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