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Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.
de Boer, Martin; van Leeuwen, Karin; Geissler, Judy; van Alphen, Floris; de Vries, Esther; van der Kuip, Martijn; Terheggen, Suzanne W J; Janssen, Hans; van den Berg, Timo K; Meijer, Alexander B; Roos, Dirk; Kuijpers, Taco W.
Afiliação
  • de Boer M; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.
  • van Leeuwen K; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.
  • Geissler J; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.
  • van Alphen F; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.
  • de Vries E; Department of Pediatrics, Jeroen Bosch Hospital, 's-Hertogenbosch, The Netherlands & Tranzo, Tilburg University, Tilburg, The Netherlands.
  • van der Kuip M; Department of Pediatric Infectious Diseases and Immunology, VU University Medical Center, Amsterdam, The Netherlands.
  • Terheggen SWJ; Department of Pediatrics, Erasmus University Medical Center (EMC), Rotterdam, The Netherlands.
  • Janssen H; Division of Cell Biology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
  • van den Berg TK; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.
  • Meijer AB; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.
  • Roos D; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.
  • Kuijpers TW; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.
Hum Mutat ; 38(10): 1402-1411, 2017 10.
Article em En | MEDLINE | ID: mdl-28585318
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Precursores de RNA / Splicing de RNA / Síndrome de Hermanski-Pudlak / Complexo 3 de Proteínas Adaptadoras / Subunidades beta do Complexo de Proteínas Adaptadoras Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Precursores de RNA / Splicing de RNA / Síndrome de Hermanski-Pudlak / Complexo 3 de Proteínas Adaptadoras / Subunidades beta do Complexo de Proteínas Adaptadoras Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos