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

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 e...

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Detalhes bibliográficos
Publicado no:Mol Vis
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2016
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4901054/
https://ncbi.nlm.nih.gov/pubmed/27307693
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