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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Detalhes bibliográficos
Publicado no:Mol Vis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2016
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4947966/
https://ncbi.nlm.nih.gov/pubmed/27440997
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