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Functional study of SCCD pathogenic gene UBIAD1

Schnyder's crystalline corneal dystrophy (SCCD) is a rare autosomal dominant genetic disorder that is characterized by progressive corneal opacity, owing to aberrant accumulation of cholesterol and phospholipids in the cornea. A number of SCCD affected families have been reported in the world s...

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Detalles Bibliográficos
Autores principales: Xie, Jumin, Li, Lingxing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8365407/
https://www.ncbi.nlm.nih.gov/pubmed/34368857
http://dx.doi.org/10.3892/mmr.2021.12345