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

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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}

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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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 -