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

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

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

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

Tsuneya M; Department of Ophthalmology, University of Tokyo Graduate School of Medicine, 7-3-1, Hongo, Bunkyo-ku, #113-8655, Tokyo, Japan.
Chen LW; Department of Ophthalmology, University of Tokyo Graduate School of Medicine, 7-3-1, Hongo, Bunkyo-ku, #113-8655, Tokyo, Japan.
Ono T; Department of Ophthalmology, University of Tokyo Graduate School of Medicine, 7-3-1, Hongo, Bunkyo-ku, #113-8655, Tokyo, Japan.
Hashimoto Y; Department of Ophthalmology, University of Tokyo Graduate School of Medicine, 7-3-1, Hongo, Bunkyo-ku, #113-8655, Tokyo, Japan.
Kitamoto K; Department of Ophthalmology, University of Tokyo Graduate School of Medicine, 7-3-1, Hongo, Bunkyo-ku, #113-8655, Tokyo, Japan.
Taketani Y; Department of Ophthalmology, University of Tokyo Graduate School of Medicine, 7-3-1, Hongo, Bunkyo-ku, #113-8655, Tokyo, Japan.
Toyono T; Department of Ophthalmology, University of Tokyo Graduate School of Medicine, 7-3-1, Hongo, Bunkyo-ku, #113-8655, Tokyo, Japan.
Aihara M; Department of Ophthalmology, University of Tokyo Graduate School of Medicine, 7-3-1, Hongo, Bunkyo-ku, #113-8655, Tokyo, Japan.
Miyai T; Department of Ophthalmology, University of Tokyo Graduate School of Medicine, 7-3-1, Hongo, Bunkyo-ku, #113-8655, Tokyo, Japan. tmiy-tky@umin.ac.jp.

Jpn J Ophthalmol ; 67(1): 38-42, 2023 Jan.

Article en En | MEDLINE | ID: mdl-36367598

Asunto(s)

Distrofias Hereditarias de la Córnea; Dimetilaliltranstransferasa; Humanos; Adulto; Dimetilaliltranstransferasa/genética; Dimetilaliltranstransferasa/metabolismo; Pueblos del Este de Asia; Distrofias Hereditarias de la Córnea/diagnóstico; Distrofias Hereditarias de la Córnea/genética; Mutación; Linaje

Palabras clave

Genetic analysis; Pathogenic variation; Schnyder corneal dystrophy; UBIAD1; UbiA prenyltransferase domain-containing protein 1

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Distrofias Hereditarias de la Córnea / Dimetilaliltranstransferasa Límite: Adult / Humans Idioma: En Año: 2023 Tipo del documento: Article

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