Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families

Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families

AIM: To investigate the genetic basis of autosomal recessive retinitis pigmentosa (arRP) in two consanguineous/ endogamous Pakistani families. METHODS: Whole exome sequencing (WES) was performed on genomic DNA samples of patients with arRP to identify disease causing mutations. Sanger sequencing was...

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Autores principales: Muhammad Dawood, Siying Lin, Taj Ud Din, Irfan Ullah Shah, Niamat Khan, Abid Jan, Muhammad Marwan, Komal Sultan, Maha Nowshid, Raheel Tahir, Asif Naveed Ahmed, Muhammad Yasin, Emma L. Baple, Andrew H. Crosby, Shamim Saleha
Formato: article
Lenguaje:EN
Publicado: Press of International Journal of Ophthalmology (IJO PRESS) 2021
Materias:
autosomal recessive retinitis pigmentosa
pde6a
cdhr1
variants
pakistani families
Ophthalmology
RE1-994
Acceso en línea:https://doaj.org/article/c3bac845aeea470e8176e698a91f0c3b
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