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A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Szczepanski, Sandra; Hussain, Muhammad Sajid; Sur, Ilknur; Altmüller, Janine; Thiele, Holger; Abdullah, Uzma; Waseem, Syeda Seema; Moawia, Abubakar; Nürnberg, Gudrun; Noegel, Angelika Anna; Baig, Shahid Mahmood; Nürnberg, Peter.
Afiliação
  • Szczepanski S; Cologne Center for Genomics (CCG), University of Cologne, 50931, Cologne, Germany.
  • Hussain MS; Institute of Biochemistry I, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany.
  • Sur I; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Weyertal 115b, 50931, Cologne, Germany.
  • Altmüller J; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931, Cologne, Germany.
  • Thiele H; Cologne Center for Genomics (CCG), University of Cologne, 50931, Cologne, Germany.
  • Abdullah U; Institute of Biochemistry I, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany.
  • Waseem SS; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Weyertal 115b, 50931, Cologne, Germany.
  • Moawia A; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931, Cologne, Germany.
  • Nürnberg G; Institute of Biochemistry I, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany.
  • Noegel AA; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Weyertal 115b, 50931, Cologne, Germany.
  • Baig SM; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931, Cologne, Germany.
  • Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, 50931, Cologne, Germany.
Hum Genet ; 135(2): 157-70, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26621532
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Splicing de RNA / Povo Asiático / Homozigoto / Microcefalia / Proteínas Associadas aos Microtúbulos Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Splicing de RNA / Povo Asiático / Homozigoto / Microcefalia / Proteínas Associadas aos Microtúbulos Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article