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Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Ullah, Asmat; Umair, Muhammad; Yousaf, Maryam; Khan, Sher Alam; Nazim-Ud-Din, Muhammad; Shah, Khadim; Ahmad, Farooq; Azeem, Zahid; Ali, Ghazanfar; Alhaddad, Bader; Rafique, Afzal; Jan, Abid; Haack, Tobias B; Strom, Tim M; Meitinger, Thomas; Ghous, Tahseen; Ahmad, Wasim.
Afiliación
  • Ullah A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Umair M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Yousaf M; Institute of Human Genetics, Technische Universitat Munchen, Munchen, Germany.
  • Khan SA; Institute of Human Genetics, Helmholtz Zentrum Munchen, Neuherberg, Germany.
  • Nazim-Ud-Din M; Department of Chemistry, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
  • Shah K; Kohat University of Science and Technology (KUST), Khyber Pakhtunkhwa Province, Pakistan.
  • Ahmad F; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
  • Azeem Z; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Ali G; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Alhaddad B; Department of Chemistry, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
  • Rafique A; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
  • Jan A; Institute of Human Genetics, Technische Universitat Munchen, Munchen, Germany.
  • Haack TB; Institute of Human Genetics, Helmholtz Zentrum Munchen, Neuherberg, Germany.
  • Strom TM; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Meitinger T; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Ghous T; Kohat University of Science and Technology (KUST), Khyber Pakhtunkhwa Province, Pakistan.
  • Ahmad W; Institute of Human Genetics, Technische Universitat Munchen, Munchen, Germany.
Mol Vis ; 23: 482-494, 2017.
Article en En | MEDLINE | ID: mdl-28761321
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas / Consanguinidad / Síndrome de Bardet-Biedl / Chaperoninas del Grupo II / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Pakistán
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas / Consanguinidad / Síndrome de Bardet-Biedl / Chaperoninas del Grupo II / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Pakistán