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

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Bibliographic Details
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 R1 andrew.cullinane@nih.gov, Vilboux, Thierry1, O'Brien, Kevin2, Curry, James A1, Maynard, Dawn M1, Carlson-Donohoe, Hannah1, Ciccone, Carla1, Markello, Thomas C1, Gunay-Aygun, Meral2, Huizing, Marjan1, Gahl, William A1,2, NISC Comparative Sequencing Program3
Source: Journal of Investigative Dermatology. Oct2011, Vol. 131 Issue 10, p2017-2025. 9p.
Database: Academic Search Ultimate
Description
ISSN:0022202X
DOI:10.1038/jid.2011.157