Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome

AIMS: To determine the correspondence between GNAQ R183Q (c.548G＞A) mutation in abnormal scleral tissue of patients with Sturge-Weber syndrome (SWS) secondary glaucoma and explore the role of GNAQ R183Q in glaucoma pathogenesis. METHODS: Episcleral tissues were obtained from 8 patients: SWS secondar...

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Detalles Bibliográficos
Autores principales: Wu, Yue, Peng, Cheng, Huang, Lulu, Xu, Li, Ding, Xuming, Liu, Yixin, Zeng, Changjuan, Sun, Hao, Guo, Wenyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Clinical Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9234408/
https://www.ncbi.nlm.nih.gov/pubmed/33707187
http://dx.doi.org/10.1136/bjophthalmol-2020-317287

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9234408/
https://www.ncbi.nlm.nih.gov/pubmed/33707187
http://dx.doi.org/10.1136/bjophthalmol-2020-317287

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