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

Jose María Bastida, Sara Morais, Veronica Palma-Barqueros, Rocio Benito, Nuria Bermejo, Mutlu Karkucak, Maria Trapero-Marugan, Natalia Bohdan, Mónica Pereira, Ana Marin-Quilez, Jorge Oliveira, Yusuf Yucel, Rosario Santos, Jose Padilla, Kamila Janusz, Catarina Lau, Marta Martin-Izquierdo, Eduarda Couto, Juan Francisco Ruiz-Pividal, Vicente Vicente, Jesus Maria Hernández-Rivas, Jose Ramon González-Porras, Maria Luisa Lozano, Margarida Lima, Jose Rivera
  • Annals of Medicine, April 2019, Taylor & Francis
  • DOI: 10.1080/07853890.2019.1587498

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http://dx.doi.org/10.1080/07853890.2019.1587498

The following have contributed to this page: Dr José M Bastida, Dr Nuria Bermejo, and Rosário Santos