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Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
Naeem, Muhammad Asif; Gottsch, Alexander D H; Ullah, Inayat; Khan, Shaheen N; Husnain, Tayyab; Butt, Nadeem H; Qazi, Zaheeruddin A; Akram, Javed; Riazuddin, Sheikh; Ayyagari, Radha; Hejtmancik, J Fielding; Riazuddin, S Amer.
Afiliação
  • Naeem MA; 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.
  • Ullah I; 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: 1261-71, 2015.
Article em En | MEDLINE | ID: mdl-26628857

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 5 / Oftalmopatias Hereditárias / Cegueira Noturna / Receptores de Glutamato / Consanguinidade / Doenças Genéticas Ligadas ao Cromossomo X / Mutação / Miopia Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Animals / Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 5 / Oftalmopatias Hereditárias / Cegueira Noturna / Receptores de Glutamato / Consanguinidade / Doenças Genéticas Ligadas ao Cromossomo X / Mutação / Miopia Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Animals / Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article