Article
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
Molecular vision - 1 Jan 2016
Ullah Inayat, Kabir Firoz, Iqbal Muhammad, Gottsch Clare Brooks S, Naeem Muhammad Asif, Assir Muhammad Zaman, Khan Shaheen N, Akram Javed, Riazuddin Sheikh, Ayyagari Radha, Hejtmancik J Fielding, Riazuddin S Amer
Abstract excerpt
PURPOSE: To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous familial cases. METHODS: Seven large familial cases with multiple individuals diagnosed with retinitis pigmentosa were included in the study. Affected individuals in these families underwent ophthalmic examinations to document the symptoms and confirm the initial diagnosis. Blood samples...
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