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Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.
Bastida, Jose María; Morais, Sara; Palma-Barqueros, Veronica; Benito, Rocio; Bermejo, Nuria; Karkucak, Mutlu; Trapero-Marugan, Maria; Bohdan, Natalia; Pereira, Mónica; Marin-Quilez, Ana; Oliveira, Jorge; Yucel, Yusuf; Santos, Rosario; Padilla, Jose; Janusz, Kamila; Lau, Catarina; Martin-Izquierdo, Marta; Couto, Eduarda; Francisco Ruiz-Pividal, Juan; Vicente, Vicente; Hernández-Rivas, Jesus Maria; González-Porras, Jose Ramon; Luisa Lozano, Maria; Lima, Margarida; Rivera, Jose.
  • Bastida JM; a Department of Hematology , University Hospital of Salamanca-IBSAL , Salamanca , Spain.
  • Morais S; b Department of Hematology, University Hospital of Porto-UMIB/ICBAS/UP , Porto , Portugal.
  • Palma-Barqueros V; c Department of Hematology and Oncology, University Hospital of Morales Meseguer, Centro Regional de Hemodonación, University of Murcia , Murcia , Spain.
  • Benito R; d IBSAL, IBMCC, CIC, University of Salamanca-CSIC , Salamanca , Spain.
  • Bermejo N; e Department of Hematology , Hospital of San Pedro de Alcantara , Cáceres , Spain.
  • Karkucak M; f Department of Medical Genetics , Sakarya University Training and Research Hospital , Sakarya , Turkey.
  • Trapero-Marugan M; g Department of Hematology , University Hospital of Puerta de Hierro , Majadahonda , Spain.
  • Bohdan N; c Department of Hematology and Oncology, University Hospital of Morales Meseguer, Centro Regional de Hemodonación, University of Murcia , Murcia , Spain.
  • Pereira M; b Department of Hematology, University Hospital of Porto-UMIB/ICBAS/UP , Porto , Portugal.
  • Marin-Quilez A; d IBSAL, IBMCC, CIC, University of Salamanca-CSIC , Salamanca , Spain.
  • Oliveira J; h Department of Molecular Genetics, Medical Center of Genetics Dr. Jacinto Magalhães, University Hospital of Porto-UMIB/ICBAS/UP , Porto , Portugal.
  • Yucel Y; f Department of Medical Genetics , Sakarya University Training and Research Hospital , Sakarya , Turkey.
  • Santos R; h Department of Molecular Genetics, Medical Center of Genetics Dr. Jacinto Magalhães, University Hospital of Porto-UMIB/ICBAS/UP , Porto , Portugal.
  • Padilla J; c Department of Hematology and Oncology, University Hospital of Morales Meseguer, Centro Regional de Hemodonación, University of Murcia , Murcia , Spain.
  • Janusz K; d IBSAL, IBMCC, CIC, University of Salamanca-CSIC , Salamanca , Spain.
  • Lau C; b Department of Hematology, University Hospital of Porto-UMIB/ICBAS/UP , Porto , Portugal.
  • Martin-Izquierdo M; d IBSAL, IBMCC, CIC, University of Salamanca-CSIC , Salamanca , Spain.
  • Couto E; b Department of Hematology, University Hospital of Porto-UMIB/ICBAS/UP , Porto , Portugal.
  • Francisco Ruiz-Pividal J; c Department of Hematology and Oncology, University Hospital of Morales Meseguer, Centro Regional de Hemodonación, University of Murcia , Murcia , Spain.
  • Vicente V; c Department of Hematology and Oncology, University Hospital of Morales Meseguer, Centro Regional de Hemodonación, University of Murcia , Murcia , Spain.
  • Hernández-Rivas JM; a Department of Hematology , University Hospital of Salamanca-IBSAL , Salamanca , Spain.
  • González-Porras JR; d IBSAL, IBMCC, CIC, University of Salamanca-CSIC , Salamanca , Spain.
  • Luisa Lozano M; a Department of Hematology , University Hospital of Salamanca-IBSAL , Salamanca , Spain.
  • Lima M; c Department of Hematology and Oncology, University Hospital of Morales Meseguer, Centro Regional de Hemodonación, University of Murcia , Murcia , Spain.
  • Rivera J; b Department of Hematology, University Hospital of Porto-UMIB/ICBAS/UP , Porto , Portugal.
Ann Med ; 51(2): 141-148, 2019 03.
Article en En | MEDLINE | ID: mdl-30990103
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Hermanski-Pudlak / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Hermanski-Pudlak / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Año: 2019 Tipo del documento: Article