Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia
Andrew R. Cullinane(National Human Genome Research Institute), William A. Gahl(National Institute of Child Health), Thierry Vilboux(Inova Health System), Dawn Maynard(National Human Genome Research Institute), Thomas C. Markello(National Human Genome Research Institute), Meral Gunay‐Aygun(Johns Hopkins University), Marjan Huizing(National Human Genome Research Institute), Kevin O’Brien(National Human Genome Research Institute), NISC Comparative Sequencing Program(National Institutes of Health), Hannah Carlson-Donohoe(National Institutes of Health), Carla Ciccone(National Institutes of Health), James A. Curry(National Institutes of Health)
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