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Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
Khan, Shahid Y; Ali, Shahbaz; Naeem, Muhammad Asif; Khan, Shaheen N; Husnain, Tayyab; Butt, Nadeem H; Qazi, Zaheeruddin A; Akram, Javed; Riazuddin, Sheikh; Ayyagari, Radha; Hejtmancik, J Fielding; Riazuddin, S Amer.
Afiliación
  • Khan SY; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD.
  • Ali S; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Naeem MA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Khan SN; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Husnain T; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Butt NH; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
  • Qazi ZA; Layton Rahmatulla Benevolent Trust Hospital, Lahore Pakistan.
  • Akram J; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan ; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad Pakistan.
  • Riazuddin S; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan ; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan ; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad Pakistan.
  • Ayyagari R; Shiley Eye Institute, University of California San Diego, La Jolla CA.
  • Hejtmancik JF; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda MD.
  • Riazuddin SA; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD.
Mol Vis ; 21: 871-82, 2015.
Article en En | MEDLINE | ID: mdl-26321862
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Proteínas del Ojo / Fosfodiesterasas de Nucleótidos Cíclicos Tipo 6 / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Proteínas del Ojo / Fosfodiesterasas de Nucleótidos Cíclicos Tipo 6 / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2015 Tipo del documento: Article