Selenoprotein-Related Disease in a Young Girl Caused by Nonsense Mutations in theSBP2Gene

Author:

Azevedo Monalisa Ferreira12,Barra Gustavo Barcelos3,Naves Luciana Ansaneli1,Ribeiro Velasco Lara Franciele3,Godoy Garcia Castro Patrícia3,de Castro Luiz Claudio Gonçalves4,Amato Angélica Amorim12,Miniard Angela5,Driscoll Donna56,Schomburg Lutz7,de Assis Rocha Neves Francisco2

Affiliation:

1. Section of Endocrinology (M.F.A., L.A.N., A.A.A.) Faculty of Medicine, University Hospital of Brasília, Brasília, DF, 70840-901, Brazil;

2. Molecular Pharmacology Laboratory (M.F.A., A.A.A., F.d.A.R.N.), Faculty of Health Sciences, University of Brasília, Brasília, DF, 70910-900. Brazil;

3. Sabin Institute and Laboratory of Clinical Analysis (G.B.B., L.F.R.V., P.G.G.C.), Brasília, DF, 70390-108, Brazil;

4. Department of Pediatrics (L.C.G.d.C.), Faculty of Medicine, University Hospital of Brasília, Brasília, DF, 70840-901, Brazil;

5. Department of Cell Biology (A.M., D.D.), Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio 44195;

6. Lerner Research Institute, Cleveland Clinic, and Department of Molecular Medicine (D.D.), Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio 44195;

7. Institute for Experimental Endocrinology (L.S.), Charité-University Medicine Berlin, Berlin 13353, Germany

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

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