Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families

BACKGROUND: Retinitis pigmentosa (RP) belongs to pigmentary retinopathies, a generic name for all retinal dystrophies with a major phenotypical and genotypical variation, characterized by progressive reduction of photo-receptor functionality of the rod and cone. Global prevalence of RP is ~ 1/4000 a...

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Detalles Bibliográficos
Autores principales: Babar, Masroor Ellahi, Ali, Akhtar, Abbas, Syed Hassan, Hasnain, Mirza Jawad Ul, Babar, Nida, Babar, Hira, Hussain, Tanveer, Nadeem, Asif, Ayub, Namra, Shahid, Sundus, Pervez, Muhammad Tariq
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884379/
https://www.ncbi.nlm.nih.gov/pubmed/36743378
http://dx.doi.org/10.18502/ijph.v51i9.10560

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884379/
https://www.ncbi.nlm.nih.gov/pubmed/36743378
http://dx.doi.org/10.18502/ijph.v51i9.10560

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