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albinism, oculocutaneous
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Journal Articles

Prognostic Significance of Reduced BCAS4 expression in Bone Marrow Cells of Patients with Myelodysplastic Syndromes

Masayuki Shiseki, MD PhD, Mayuko Ishii, Mari Ohwashi, Kentaro Yoshinaga, MD PhD, Naoki Mori, MD PhD, Junji Tanaka, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 4258.
https://doi.org/10.1182/blood-2019-124738
Published: 2019
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

Novel Hermanksky-Pudlak Syndrome Type 6 Missense Variant Associated with Subclinical Oculocutaneous Albinism and Mild Bleeding

Nagabhishek Moka, MD, Dong Chen, MD PhD, Chen Han, Kevin J O'Brien, ANP, Sara Haroutinian, Laryssa Huryn, Wendy Introne, MD, Ellen Macnamara, William A. Gahl, MD PhD, May Christine Malicdan, Bernadette Gochuico, MD, Koyamangalath Krishnan, MD
Journal: Blood
Blood (2018) 132 (Supplement 1): 1153.
https://doi.org/10.1182/blood-2018-99-109829
Published: 2018
Journal Articles

Patients with Hermansky-Pudlak Syndrome Show Various Phenotypes Caused by Novel Mutations,

Kirstin Sandrock, PhD, Karin Kurnik, MD, Stephan Ehl, MD, Christoph Bidlingmaier, Lea Nakamura, Nina Rombach, MD, Sophie Schäfer, MD, Barbara Zieger, MD
Journal: Blood
Blood (2011) 118 (21): 3286.
https://doi.org/10.1182/blood.V118.21.3286.3286
Published: 2011