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Article

GLRA2 gene mutations cause high myopia in humans and mice.

Journal of medical genetics - 1 Feb 2023

Tian Qi, Tong Ping, Chen Gong, Deng Meichun, Cai Tian'e, Tian Runyi, Zhang Zimin, Xia Kun, Hu Zhengmao

Abstract excerpt

BACKGROUND: High myopia (HM) is a leading cause of blindness that has a strong genetic predisposition. However, its genetic and pathogenic mechanisms remain largely unknown. Thus, this study aims to determine the genetic profile of individuals from two large Chinese families with HM and 200 patients with familial/sporadic HM. We also explored the pathogenic mechanism of HM using HEK293 cells and a mouse model....

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Identifiers

PMID: 35396272
DOI: 10.1136/jmedgenet-2022-108425
PMCID: PMC9887403

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