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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Khan, Muzammil A; Rupp, Verena M; Orpinell, Meritxell; Hussain, Muhammad S; Altmüller, Janine; Steinmetz, Michel O; Enzinger, Christian; Thiele, Holger; Höhne, Wolfgang; Nürnberg, Gudrun; Baig, Shahid M; Ansar, Muhammad; Nürnberg, Peter; Vincent, John B; Speicher, Michael R; Gönczy, Pierre; Windpassinger, Christian.
Afiliação
  • Khan MA; Gomal Centre of Biochemistry and Biotechnology, Gomal University D.I.Khan, Khyber Pakhtoonkhuwa, Pakistan.
  • Rupp VM; Institute of Human Genetics and.
  • Orpinell M; Swiss Institute for Experimental Cancer Research (ISREC), Swiss Federal Institute of Technology (EPFL), School of Life Sciences, Lausanne, Switzerland.
  • Hussain MS; Cologne Center for Genomics (CCG), Institute of Biochemistry I, Medical Faculty.
  • Altmüller J; Cologne Center for Genomics (CCG), Institute of Human Genetics.
  • Steinmetz MO; Laboratory of Biomolecular Research, Department of Biology and Chemistry, Paul Scherrer Institut, Villigen PSI, Switzerland.
  • Enzinger C; Department of Neurology, Medical University of Graz, Graz, Austria.
  • Thiele H; Cologne Center for Genomics (CCG).
  • Höhne W; Cologne Center for Genomics (CCG).
  • Nürnberg G; Cologne Center for Genomics (CCG).
  • Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
  • Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan and.
  • Nürnberg P; Cologne Center for Genomics (CCG), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
  • Vincent JB; Molecular Neuropsychiatry and Development (MiND) Lab, The Campbell Family Brain Research Institute, The Centre for Addiction & Mental Health (CAMH), Toronto, Ontario, Canada.
  • Speicher MR; Institute of Human Genetics and.
  • Gönczy P; Swiss Institute for Experimental Cancer Research (ISREC), Swiss Federal Institute of Technology (EPFL), School of Life Sciences, Lausanne, Switzerland.
  • Windpassinger C; Institute of Human Genetics and christian.windpassinger@medunigraz.at.
Hum Mol Genet ; 23(22): 5940-9, 2014 Nov 15.
Article em En | MEDLINE | ID: mdl-24951542
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ciclo Celular / Mutação de Sentido Incorreto / Povo Asiático Tipo de estudo: Etiology_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Ano de publicação: 2014 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ciclo Celular / Mutação de Sentido Incorreto / Povo Asiático Tipo de estudo: Etiology_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Ano de publicação: 2014 Tipo de documento: Article