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Novel mutation in two brothers with Hermansky Pudlak syndrome type 3.
Sandrock-Lang, Kirstin; Bartsch, Ingrid; Buechele, Nina; Koehler, Udo; Simon-Gabriel, Carl Philipp; Eckenweiler, Matthias; 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.
  • Bartsch I; 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.
  • Buechele N; 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.
  • Koehler U; MGZ - Medical Genetic Center, Munich, Germany.
  • Simon-Gabriel CP; Department of Neuroradiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Eckenweiler M; Department of Neuropediatrics and Muscle Disorders, 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 ; 67: 75-80, 2017 09.
Article em En | MEDLINE | ID: mdl-28284561
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Síndrome de Hermanski-Pudlak Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Humans / Male Idioma: En Revista: Blood Cells Mol Dis Assunto da revista: HEMATOLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Síndrome de Hermanski-Pudlak Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Humans / Male Idioma: En Revista: Blood Cells Mol Dis Assunto da revista: HEMATOLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos