A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation

Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disease in humans, characterized by abnormal deposition of cholesterol and phospholipids in cornea caused by mutations in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene. In this study, we generated a mouse line carrying Ubia...

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Detalles Bibliográficos
Autores principales: Dong, Fei, Jin, Xueting, Boettler, Michelle A., Sciulli, Harrison, Abu-Asab, Mones, Del Greco, Christina, Wang, Shurong, Hu, Yueh-Chiang, Campos, Maria M., Jackson, Shelley N., Muller, Ludovic, Woods, Amina S., Combs, Christian A., Zhang, Jianhua, Nickerson, Michael L., Kruth, Howard S., Weiss, Jayne S., Kao, Winston W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6033878/
https://www.ncbi.nlm.nih.gov/pubmed/29977031
http://dx.doi.org/10.1038/s41598-018-28545-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6033878/
https://www.ncbi.nlm.nih.gov/pubmed/29977031
http://dx.doi.org/10.1038/s41598-018-28545-0

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