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Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
Simaite, Deimante; Kofent, Julia; Gong, Maolian; Rüschendorf, Franz; Jia, Shiqi; Arn, Pamela; Bentler, Kristi; Ellaway, Carolyn; Kühnen, Peter; Hoffmann, Georg F; Blau, Nenad; Spagnoli, Francesca M; Hübner, Norbert; Raile, Klemens.
Affiliation
  • Simaite D; Experimental and Clinical Research Center, Charité Medical Faculty and Max-Delbrück Center for Molecular Medicine, Berlin, Germany Cardiovascular and Metabolic Diseases, Max-Delbrück Center for Molecular Medicine, Berlin, Germany.
  • Kofent J; Laboratory of Molecular and Cellular Basis of Embryonic Development, Max-Delbrück Center for Molecular Medicine, Berlin, Germany.
  • Gong M; Experimental and Clinical Research Center, Charité Medical Faculty and Max-Delbrück Center for Molecular Medicine, Berlin, Germany Cardiovascular and Metabolic Diseases, Max-Delbrück Center for Molecular Medicine, Berlin, Germany.
  • Rüschendorf F; Cardiovascular and Metabolic Diseases, Max-Delbrück Center for Molecular Medicine, Berlin, Germany.
  • Jia S; Department of Neuroscience, Max-Delbrück Center for Molecular Medicine, Berlin, Germany.
  • Arn P; Division of Genetics, Department of Pediatrics, Nemours Children's Clinic, Jacksonville, FL.
  • Bentler K; Division of Pediatric Genetics and Metabolism, Department of Pediatrics, University of Minnesota Amplatz Children's Hospital, Minneapolis, MN.
  • Ellaway C; Western Sydney Genetics Program, Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia.
  • Kühnen P; Institute for Experimental Pediatric Endocrinology, Charité Medical Faculty, Berlin, Germany.
  • Hoffmann GF; Division of Inborn Metabolic Diseases, Department of General Pediatrics, University Children's Hospital, Heidelberg, Germany.
  • Blau N; Division of Inborn Metabolic Diseases, Department of General Pediatrics, University Children's Hospital, Heidelberg, Germany Division of Metabolism, University Children's Hospital, Zürich, Switzerland.
  • Spagnoli FM; Laboratory of Molecular and Cellular Basis of Embryonic Development, Max-Delbrück Center for Molecular Medicine, Berlin, Germany.
  • Hübner N; Cardiovascular and Metabolic Diseases, Max-Delbrück Center for Molecular Medicine, Berlin, Germany.
  • Raile K; Experimental and Clinical Research Center, Charité Medical Faculty and Max-Delbrück Center for Molecular Medicine, Berlin, Germany klemens.raile@charite.de.
Diabetes ; 63(10): 3557-64, 2014 Oct.
Article in En | MEDLINE | ID: mdl-24848070

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Diabetes Mellitus, Type 2 / Hydro-Lyases / Mutation Type of study: Prognostic_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: Diabetes Year: 2014 Document type: Article Affiliation country: Germany Country of publication: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Diabetes Mellitus, Type 2 / Hydro-Lyases / Mutation Type of study: Prognostic_studies Limits: Adolescent / Child / Female / Humans / Male Language: En Journal: Diabetes Year: 2014 Document type: Article Affiliation country: Germany Country of publication: United States