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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
Schwarz, Klaus; Iolascon, Achille; Verissimo, Fatima; Trede, Nikolaus S; Horsley, Wyatt; Chen, Wen; Paw, Barry H; Hopfner, Karl-Peter; Holzmann, Karlheinz; Russo, Roberta; Esposito, Maria Rosaria; Spano, Daniela; De Falco, Luigia; Heinrich, Katja; Joggerst, Brigitte; Rojewski, Markus T; Perrotta, Silverio; Denecke, Jonas; Pannicke, Ulrich; Delaunay, Jean; Pepperkok, Rainer; Heimpel, Hermann.
Affiliation
  • Schwarz K; Institute for Transfusion Medicine, University of Ulm, Ulm, Germany. klaus.schwarz@uni-ulm.de
Nat Genet ; 41(8): 936-40, 2009 Aug.
Article in En | MEDLINE | ID: mdl-19561605
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: COP-Coated Vesicles / Vesicular Transport Proteins / Anemia, Dyserythropoietic, Congenital / Mutation Limits: Animals / Humans Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2009 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: COP-Coated Vesicles / Vesicular Transport Proteins / Anemia, Dyserythropoietic, Congenital / Mutation Limits: Animals / Humans Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2009 Document type: Article Affiliation country: Germany Country of publication: United States