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Journal Articles

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

Jose Maria Bastida, MDPhD, Sara Morais, MD, Veronica Palma-Barqueros, Rocio Benito, PhD, Nuria Bermejo, MD, Mutlu Karkucak, MD, Maria Trapero-Marugan, MD, Natalia Bohdan, Monica Pereira, MD, Ana Marín-Quílez, Jorge Oliveira, MD, Yusuf Yucel, MD, Rosario Santos, MD, Jose Padilla, PhD, Kamila Janusz, Ana Hortal, MD, Vicente Vicente Garcia, MD PhD, Jesús-María Hernández-Rivas, MD PhD, Maria L Lozano, MD PhD, Jose Ramon González-Porras, MDPhD, Margarida Lima, MD, Jose Rivera, PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 1147.
https://doi.org/10.1182/blood-2018-99-112968
Published: 2018
Journal Articles

Identification of a Novel Heterozygous Mutation ( c.2213T>G;p.Leu738Arg ) in Platelet Glycoprotein ITGB3 gene in a Patient with Glanzmann's Thrombasthenia

Candido E. Rivera, MD, Prakash Vishnu, MD, Gretchen Schaef Johns, MD, Rajiv K. Pruthi, M.B.B.S., Dong Chen, MD PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 1158.
https://doi.org/10.1182/blood-2018-99-117995
Published: 2018