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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
Hlavní autoři: Park, Jong Eun, Yun, Sun Ae, Roh, Eun Youn, Yoon, Jong Hyun, Shin, Sue, Ki, Chang-Seok
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2021
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8116257/
https://ncbi.nlm.nih.gov/pubmed/34012230
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