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Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.
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.
Afiliação
  • Kabir F; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Ullah I; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Ali S; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Gottsch AD; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD.
  • Naeem MA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Assir MZ; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
  • Khan SN; National Centre of Excellence in Molecular Biology, University of the Punjab, 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, 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 ; 22: 610-25, 2016.
Article em En | MEDLINE | ID: mdl-27307693
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas do Olho / Mutação com Perda de Função Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas do Olho / Mutação com Perda de Função Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article