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Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3.
Lecchi, Anna; La Marca, Silvia; Femia, Eti A; Lenz, Antonia; Boeckelmann, Doris; Artoni, Andrea; Peyvandi, Flora; Zieger, Barbara.
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  • Lecchi A; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center , Milano, Italy.
  • La Marca S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center , Milano, Italy.
  • Femia EA; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center , Milano, Italy.
  • Lenz A; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Medical Center - University of Freiburg , Germany.
  • Boeckelmann D; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Medical Center - University of Freiburg , Germany.
  • Artoni A; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center , Milano, Italy.
  • Peyvandi F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center , Milano, Italy.
  • Zieger B; Department of Pathophysiology and Transplantation and Fondazione Luigi Villa, Università degli Studi di Milano , Milano, Italy.
Platelets ; 31(7): 960-963, 2020 Oct 02.
Article en En | MEDLINE | ID: mdl-31880485
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Síndrome de Hermanski-Pudlak / Péptidos y Proteínas de Señalización Intracelular Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Platelets Asunto de la revista: HEMATOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Síndrome de Hermanski-Pudlak / Péptidos y Proteínas de Señalización Intracelular Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Platelets Asunto de la revista: HEMATOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Italia