Article

GTF2A1L frameshift variant of a primary open angle glaucoma family from Chinese Han nationality

2023-11-21

Abstract excerpt

Primary open angle glaucoma (POAG) is a chronic, progressive optic neuropathy with a characteristic optic disc and no other eye disease or congenital abnormality. We have collected a 4-generation family of POAG from Chinese Han nationality. Gene-chip linkage localization and whole exome sequencing were performed on this family to identify pathogenic mutations. Linkage localization analysis identified a linkage pea...

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Literature Corpus work: fb64e441-f4e9-5a5e-b29a-3d3a8f72c7b3
DOI: 10.21203/rs.3.rs-3623146/v1

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