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Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami, Yoshiko; Tawamie, Hasan; Maeda, Yusuke; Büttner, Christian; Buchert, Rebecca; Radwan, Farah; Schaffer, Stefanie; Sticht, Heinrich; Aigner, Michael; Reis, André; Kinoshita, Taroh; Jamra, Rami Abou.
Affiliation
  • Murakami Y; Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Suita, Osaka, Japan.
  • Tawamie H; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Maeda Y; Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Suita, Osaka, Japan.
  • Büttner C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Buchert R; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Radwan F; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Schaffer S; Department of Internal Medicine 5, Hematology and Oncology, University of Erlangen-Nürnberg, Erlangen, Germany.
  • Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Aigner M; Department of Internal Medicine 5, Hematology and Oncology, University of Erlangen-Nürnberg, Erlangen, Germany.
  • Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Kinoshita T; Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Suita, Osaka, Japan.
  • Jamra RA; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
PLoS Genet ; 10(5): e1004320, 2014 May.
Article in En | MEDLINE | ID: mdl-24784135
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Full text: 1 Database: MEDLINE Main subject: Brain Diseases / Glycosylphosphatidylinositols / Phosphoric Monoester Hydrolases / Membrane Proteins / Intellectual Disability / Mutation Type of study: Prognostic_studies Language: En Journal: PLoS Genet Year: 2014 Type: Article Affiliation country: Japan
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Full text: 1 Database: MEDLINE Main subject: Brain Diseases / Glycosylphosphatidylinositols / Phosphoric Monoester Hydrolases / Membrane Proteins / Intellectual Disability / Mutation Type of study: Prognostic_studies Language: En Journal: PLoS Genet Year: 2014 Type: Article Affiliation country: Japan