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Title
Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia
Authors
Cullinane, Andrew R.; Vilboux, Thierry; O'Brien, Kevin; Curry, James A.; Maynard, Dawn M.; Carlson-Donohoe, Hannah; Ciccone, Carla; NISC Comparative Sequencing Program; Markello, Thomas C.; Gunay-Aygun, Meral; Huizing, Marjan; Gahl, William A.
Publication
Journal of Investigative Dermatology, 2011, Vol 131, Issue 10, p2017