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A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Kaygusuz, Emrah; Khayyat, Arwa Ishaq A; Abdullah, Uzma; Budde, Birgit Susanne; Asif, Maria; Ahmed, Ilyas; Makhdoom, Ehtisham Ul Haq; Sur-Erdem, Ilknur; Baig, Jamshaid Mahmood; Khan, Muhammad Mohsin Ali; Toliat, Mohammad Reza; Becker, Christian; Anwar, Haseeb; Iqbal, Maria; Fischer, Sarah; Jameel, Muhammad; Sher, Muhammad; Tariq, Muhammad; Malik, Naveed Altaf; Noegel, Angelika A; Hassan, Muhammad Jawad; Thiele, Holger; Tinschert, Sigrid; Eichinger, Ludwig; Höning, Stefan; Baig, Shahid Mahmood; Nürnberg, Peter; Hussain, Muhammad Sajid.
Afiliación
  • Kaygusuz E; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Khayyat AIA; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
  • Abdullah U; Molecular Biology and Genetics, Bilecik Seyh Edebali University, Bilecik, Turkey.
  • Budde BS; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
  • Asif M; Biochemistry Department, King Saud University, Riyadh, Saudi Arabia.
  • Ahmed I; University Institute of Biochemistry and Biotechnology, PMAS-Arid Agriculture University, Rawalpindi, Pakistan.
  • Makhdoom EUH; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Sur-Erdem I; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Baig JM; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
  • Khan MMA; Institute for Cardiogenetics, University of Luebeck, Luebeck, Germany.
  • Toliat MR; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Becker C; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
  • Anwar H; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Iqbal M; Department of Physiology, Government College University, Faisalabad, Pakistan.
  • Fischer S; Department of Molecular Biology, Koc University School of Medicine, Istanbul, Turkey.
  • Jameel M; Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad, Pakistan.
  • Sher M; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Tariq M; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Malik NA; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Noegel AA; Department of Physiology, Government College University, Faisalabad, Pakistan.
  • Hassan MJ; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Thiele H; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
  • Tinschert S; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Eichinger L; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
  • Höning S; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Baig SM; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Nürnberg P; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Hussain MS; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
Clin Genet ; 100(4): 486-488, 2021 10.
Article en En | MEDLINE | ID: mdl-34270086
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Deformidades Congénitas de la Mano / Dedos del Pie / Empalme del ARN / Efecto Fundador / Endodesoxirribonucleasas / Dedos / Discapacidad Intelectual / Microcefalia / Mutación Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Dinamarca
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Deformidades Congénitas de la Mano / Dedos del Pie / Empalme del ARN / Efecto Fundador / Endodesoxirribonucleasas / Dedos / Discapacidad Intelectual / Microcefalia / Mutación Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Dinamarca