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

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.

Afiliación

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 en En | MEDLINE | ID: mdl-28585318

Asunto(s)

Complejo 3 de Proteína Adaptadora/genética; Subunidades beta de Complejo de Proteína Adaptadora/genética; Síndrome de Hermanski-Pudlak/genética; Precursores del ARN/genética; Empalme del ARN/genética; Adolescente; Adulto; Niño; Preescolar; Codón sin Sentido/genética; Exones/genética; Femenino; Síndrome de Hermanski-Pudlak/fisiopatología; Humanos; Lactante; Masculino; Persona de Mediana Edad; Neutrófilos/metabolismo; Neutrófilos/patología; Fenotipo; Mutación Puntual; Sitios de Empalme de ARN/genética; Eliminación de Secuencia/genética

Palabras clave

AP3B1; Hermansky-Pudlak syndrome; cryptic splice site; neutrophil granule formation; pre-mRNA splicing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Precursores del ARN / Empalme del ARN / Síndrome de Hermanski-Pudlak / Complejo 3 de Proteína Adaptadora / Subunidades beta de Complejo de Proteína Adaptadora Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Países Bajos

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