Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort

(1) Background/aims: To examine potential genetic modifiers of disease penetrance in PRPF31-associated retinitis pigmentosa 11 (RP11). (2) Methods: Blood samples from individuals (n = 37) with PRPF31 variants believed to be disease-causing were used for molecular genetic testing and, in some cases (...

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Detalles Bibliográficos
Autores principales: Lisbjerg, Kristian, Grønskov, Karen, Bertelsen, Mette, Møller, Lisbeth Birk, Kessel, Line
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956082/
https://www.ncbi.nlm.nih.gov/pubmed/36833363
http://dx.doi.org/10.3390/genes14020435

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956082/
https://www.ncbi.nlm.nih.gov/pubmed/36833363
http://dx.doi.org/10.3390/genes14020435

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