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Article

P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families.

JPMA. The Journal of the Pakistan Medical Association - 1 Mar 2021

Khan Anoshiya Ali, Waryah Yar Muhammad, Iqbal Muhammad, Azhar Baig Hafiz Muhammad, Rafique Muhammad, Waryah Ali Muhammad

Abstract excerpt

OBJECTIVE: To explore the genetic cause of autosomal recessive retinitis pigmentosa in consanguineous families. METHODS: The multi-centre study was conducted from July 2015 to June 2018 at Liaquat University of Medical and Health Sciences, Jamshoro, the University of Sindh, Jamshoro, and Islamia University, Bahawalpur, Pakistan, and comprised families affected with non-syndromic autosomal recessive retinitis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34057927
DOI: 10.47391/JPMA.256

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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