Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

por Cullinane, Andrew R., Vilboux, Thierry, O’Brien, Kevin, Curry, James A., Maynard, Dawn M., Carlson-Donohoe, Hannah, Ciccone, Carla, Markello, Thomas C., Gunay-Aygun, Meral, Huizing, Marjan, Gahl, William A.
Publicado 2011

Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility

por Imani, Jewel, Bodine, Steven P. M., Lamattina, Anthony M., Ma, Diane D., Shrestha, Shikshya, Maynard, Dawn M., Bishop, Kevin, Nwokeji, Arinze, Malicdan, May Christine V., Testa, Lauren C., Sood, Raman, Stump, Benjamin, Rosas, Ivan O., Perrella, Mark A., Handin, Robert, Young, Lisa R., Gochuico, Bernadette R., El-Chemaly, Souheil
Publicado 2022