Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications
- Resource Type
- Article
- Authors
- Bastida, Jose Maria; Morais, Sara; Palma-Barqueros, Veronica; Benito, Rocio; Bermejo, Nuria; Karkucak, Mutlu; Trapero-Marugan, Maria; Bohdan, Natalia; Pereira, Monica; Marín-Quílez, Ana; Oliveira, Jorge; Yucel, Yusuf; Santos, Rosario; Padilla, Jose; Janusz, Kamila; Hortal, Ana; Garcia, Vicente Vicente; Hernández-Rivas, Jesús-María; Lozano, Maria L; González-Porras, Jose Ramon; Lima, Margarida; Rivera, Jose
- Source
- Blood; November 2018, Vol. 132 Issue: Supplement 1 p1147-1147, 1p
- Subject
- Language
- ISSN
- 00064971; 15280020
No relevant conflicts of interest to declare.