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Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.
Muzammal, Muhammad; Zubair, Muhammad; Bierbaumer, Sophie; Blatterer, Jasmin; Graf, Ricarda; Gul, Aisha; Abbas, Safdar; Badar, Muhammad; Abbasi, Ansar Ahmad; Khan, Muzammil Ahmad; Windpassinger, Christian.
  • Muzammal M; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan, Pakistan.
  • Zubair M; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan, Pakistan.
  • Bierbaumer S; Institute of Human Genetics, Medical University of Graz, Graz, Austria.
  • Blatterer J; Institute of Human Genetics, Medical University of Graz, Graz, Austria.
  • Graf R; Institute of Human Genetics, Medical University of Graz, Graz, Austria.
  • Gul A; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan, Pakistan.
  • Abbas S; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan, Pakistan.
  • Badar M; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan, Pakistan.
  • Abbasi AA; Department of Zoology, Mirpur University of Science and Technology (MUST), Mirpur, Pakistan.
  • Khan MA; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan, Pakistan.
  • Windpassinger C; Institute of Human Genetics, Medical University of Graz, Graz, Austria.
Mol Genet Genomic Med ; 7(8): e834, 2019 08.
Article en En | MEDLINE | ID: mdl-31294530
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Efecto Fundador / Consanguinidad / Síndrome de Bardet-Biedl / Proteínas del Citoesqueleto Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Efecto Fundador / Consanguinidad / Síndrome de Bardet-Biedl / Proteínas del Citoesqueleto Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article