Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy

Genetic characteristics and a long-term clinical follow-up of 18 Slovenian retinitis pigmentosa GTPase regulator (RPGR) patients from 10 families with retinitis pigmentosa (RP) or cone/cone-rod dystrophy (COD/CORD) are reported. RP (eight families) was associated with two already known (p.(Ser407Ile...

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Detalles Bibliográficos
Autores principales: Hadalin, Vlasta, Buscarino, Maša, Sajovic, Jana, Meglič, Andrej, Jarc-Vidmar, Martina, Hawlina, Marko, Volk, Marija, Fakin, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9958649/
https://www.ncbi.nlm.nih.gov/pubmed/36835250
http://dx.doi.org/10.3390/ijms24043840

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9958649/
https://www.ncbi.nlm.nih.gov/pubmed/36835250
http://dx.doi.org/10.3390/ijms24043840

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