Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

Background: Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and a myriad of often-serious clinical complications. Methods: We established the clinical and laboratory phenotype and genotype of six unrelated pedig...

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Publicado en:Ann Med
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Taylor & Francis 2019
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Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7857454/
https://ncbi.nlm.nih.gov/pubmed/30990103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/07853890.2019.1587498
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