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Article

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.

Molecular vision - 1 Jan 2016

Kabir Firoz, Ullah Inayat, Ali Shahbaz, Gottsch Alexander D H, Naeem Muhammad Asif, Assir Muhammad Zaman, Khan Shaheen N, Akram Javed, Riazuddin Sheikh, Ayyagari Radha, Hejtmancik J Fielding, Riazuddin S Amer

Abstract excerpt

PURPOSE: This study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families. METHODS: Large consanguineous families were ascertained from the Punjab province of Pakistan. An ophthalmic examination consisting of a fundus evaluation and electroretinography (ERG) was completed, and small aliquots of blood were collected from all...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27307693
PMCID: PMC4901054

Genes

ERG

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