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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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| Vydáno v: | Mol Vis |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Molecular Vision
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8116257/ https://ncbi.nlm.nih.gov/pubmed/34012230 |
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