Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene

PURPOSE: To identify the molecular mechanisms of the development of autosomal dominant retinitis pigmentosa (adRP) with incomplete penetrance in an Israeli Muslim Arab family. METHODS: Two patients with adRP underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field...

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Detalles Bibliográficos
Autores principales: Ali-Nasser, Tahleel, Zayit-Soudry, Shiri, Banin, Eyal, Sharon, Dror, Ben-Yosef, Tamar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9603903/
https://www.ncbi.nlm.nih.gov/pubmed/36338669

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9603903/
https://www.ncbi.nlm.nih.gov/pubmed/36338669

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