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A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4.
Sandrock-Lang, Kirstin; Böckelmann, Doris; Eberl, Wolfgang; Schmitt-Kästner, Sophie; Zieger, Barbara.
Afiliação
  • Sandrock-Lang K; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Böckelmann D; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Eberl W; Department of Pediatrics, City Hospital Braunschweig, Braunschweig, Germany.
  • Schmitt-Kästner S; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Zieger B; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address: barbara.zieger@uniklinik-freiburg.de.
Blood Cells Mol Dis ; 69: 113-116, 2018 03.
Article em En | MEDLINE | ID: mdl-29108692
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Códon sem Sentido / Síndrome de Hermanski-Pudlak Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Revista: Blood Cells Mol Dis Assunto da revista: HEMATOLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Códon sem Sentido / Síndrome de Hermanski-Pudlak Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Revista: Blood Cells Mol Dis Assunto da revista: HEMATOLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha