GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family

被引：0

作者：

Z. Zargar

M. Maleknia

M. Sabzeghabaiean

J. Mohammadi-Asl

F. Golab

M. Naseroleslami

机构：

[1] Department of Cellular and Molecular Biology,

[2] Faculty of Advanced Science and Technology,undefined

[3] Tehran Medical Sciences,undefined

[4] Islamic Azad University,undefined

[5] Noorgene Genetic and Clinical Laboratory,undefined

[6] Molecular Research Center,undefined

[7] Cellular and Molecular Research Center,undefined

[8] Iran University of Medical Sciences,undefined

[9] Cancer,undefined

[10] Petroleum and Environmental Pollutants Research Center,undefined

[11] Ahvaz Jundishapur University of Medical Sciences,undefined

来源：

Russian Journal of Genetics | 2024年 / 60卷

关键词：

GM2 gangliosidosis; hexosaminidase A; whole-exome sequencing; Tay-Sachs disease; missense variant;

D O I：

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学科分类号：

摘要：

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页码：109 / 120

页数：11

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