Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia

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

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