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Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
Lausch, Ekkehart; Janecke, Andreas; Bros, Matthias; Trojandt, Stefanie; Alanay, Yasemin; De Laet, Corinne; Hübner, Christian A; Meinecke, Peter; Nishimura, Gen; Matsuo, Mari; Hirano, Yoshiko; Tenoutasse, Sylvie; Kiss, Andrea; Rosa, Rafael Fabiano Machado; Unger, Sharon L; Renella, Raffaele; Bonafé, Luisa; Spranger, Jürgen; Unger, Sheila; Zabel, Bernhard; Superti-Furga, Andrea.
Affiliation
  • Lausch E; Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, University of Freiburg, Freiburg, Germany.
Nat Genet ; 43(2): 132-7, 2011 Feb.
Article in En | MEDLINE | ID: mdl-21217752
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acid Phosphatase / Bone Diseases, Developmental / Brain / Autoimmunity / Calcium / Genetic Predisposition to Disease / Isoenzymes Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2011 Document type: Article Affiliation country: Germany Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acid Phosphatase / Bone Diseases, Developmental / Brain / Autoimmunity / Calcium / Genetic Predisposition to Disease / Isoenzymes Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2011 Document type: Article Affiliation country: Germany Country of publication: United States