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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| Title: | 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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| Authors: | Cullinane AR; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. andrew.cullinane@nih.gov, Vilboux T, O'Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C, Markello TC, Gunay-Aygun M, Huizing M, Gahl WA |
| Corporate Authors: | NISC Comparative Sequencing Program |
| Source: | The Journal of investigative dermatology [J Invest Dermatol] 2011 Oct; Vol. 131 (10), pp. 2017-25. Date of Electronic Publication: 2011 Jun 16. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 0426720 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1747 (Electronic) Linking ISSN: 0022202X NLM ISO Abbreviation: J Invest Dermatol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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