Prevalence of granular corneal dystrophy type 2-related TGFBI p.R124H variant in a South Korean population

PURPOSE: Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant disorder and is associated with the arginine to histidine substitution at codon 124 (p.R124H) of the TGFBI gene. Although TGFBI p.R124H is known to be the most common corneal dystrophy-related pathogenic variant, there are fe...

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Detalles Bibliográficos
Autores principales: Park, Jong Eun, Yun, Sun Ae, Roh, Eun Youn, Yoon, Jong Hyun, Shin, Sue, Ki, Chang-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8116257/
https://www.ncbi.nlm.nih.gov/pubmed/34012230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8116257/
https://www.ncbi.nlm.nih.gov/pubmed/34012230

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