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