Identification of OPTN p.(Asn51Thr): A novel pathogenic variant in primary open-angle glaucoma

Pathogenic variants in TBK1, MYOC, and OPTN are associated with primary open-angle glaucoma (POAG) with severe visual field defects. This study aims to understand further POAG-related pathogenic variant(s) based on a cohort of East Asian populations that have not been well-characterized. We conducte...

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Veröffentlicht in:	Genetics in Medicine Open 2024, Vol.2, p.100839, Article 100839
Hauptverfasser:	Shiga, Yukihiro, Hashimoto, Kazuki, Fujita, Kosuke, Maekawa, Shigeto, Sato, Kota, Kubo, Shintaroh, Kawase, Kazuhide, Tokumo, Kana, Kiuchi, Yoshiaki, Mori, Sotaro, Nakamura, Makoto, Iwata, Takeshi, Nishiguchi, Koji M., Nakazawa, Toru
Format:	Artikel
Sprache:	eng
Schlagworte:	Genetics Glaucoma Myocilin (MYOC) Optineurin (OPTN) TANK Binding Kinase 1 (TBK1)
Online-Zugang:	Volltext
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