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Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
Saqib, Muhammad Arif Nadeem; Nikopoulos, Konstantinos; Ullah, Ehsan; Sher Khan, Falak; Iqbal, Jamila; Bibi, Rabia; Jarral, Afeefa; Sajid, Sundus; Nishiguchi, Koji M; Venturini, Giulia; Ansar, Muhammad; Rivolta, Carlo.
Afiliação
  • Saqib MA; 1] Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan [2] Department of Medical Genetics, University of Lausanne, 1005 Lausanne, Switzerland [3] Pakistan Medical Research Council, Islamabad, 44000, Pakistan.
  • Nikopoulos K; Department of Medical Genetics, University of Lausanne, 1005 Lausanne, Switzerland.
  • Ullah E; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
  • Sher Khan F; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
  • Iqbal J; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
  • Bibi R; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
  • Jarral A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
  • Sajid S; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
  • Nishiguchi KM; Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Miyagi 980-8574, Japan.
  • Venturini G; Department of Medical Genetics, University of Lausanne, 1005 Lausanne, Switzerland.
  • Ansar M; 1] Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan [2] Department of Medical Genetics, University of Lausanne, 1005 Lausanne, Switzerland.
  • Rivolta C; Department of Medical Genetics, University of Lausanne, 1005 Lausanne, Switzerland.
Sci Rep ; 5: 9965, 2015 May 06.
Article em En | MEDLINE | ID: mdl-25943428
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Retiniana / Mapeamento Cromossômico / Consanguinidade / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Retiniana / Mapeamento Cromossômico / Consanguinidade / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article