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Article

UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy.

Japanese journal of ophthalmology - 1 Jan 2023

Tsuneya Miki, Chen Lily Wei, Ono Takashi, Hashimoto Yumi, Kitamoto Kohdai, Taketani Yukako, Toyono Tetsuya, Aihara Makoto, Miyai Takashi

Abstract excerpt

PURPOSE: We aimed to identify pathogenic variations in the UbiA prenyltransferase domain-containing protein 1 (UBIAD1) gene in a Japanese family with Schnyder corneal dystrophy (SCD). STUDY DESIGN: Clinical study METHODS: Three clinically diagnosed SCD patients from a single pedigree participated. Patients 1 and 2 were 69- and 65-year-old sisters, and patient 3 was the 42-year-old daughter of patient 1. Blood...

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PMID: 36367598
DOI: 10.1007/s10384-022-00951-y

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