Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype

The goal of the study was to explore the spectrum of pathogenic variants in the RPGR gene in a group of male Polish patients with a retinitis pigmentosa (RP) phenotype. A total of 45 male index patients, including twins, being members of 44 families, were screened for pathogenic variants in the RPGR...

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Detalles Bibliográficos
Autores principales: Nowomiejska, Katarzyna, Baltaziak, Katarzyna, Całka, Paulina, Ciesielka, Marzanna, Teresiński, Grzegorz, Rejdak, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606843/
https://www.ncbi.nlm.nih.gov/pubmed/37895299
http://dx.doi.org/10.3390/genes14101950

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606843/
https://www.ncbi.nlm.nih.gov/pubmed/37895299
http://dx.doi.org/10.3390/genes14101950

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