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Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

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 fami...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947966/ https://www.ncbi.nlm.nih.gov/pubmed/27440997

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