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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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Title: Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.
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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PubType: Academic Journal
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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Cullinane+AR%22">Cullinane AR</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. andrew.cullinane@nih.gov<br /><searchLink fieldCode="AU" term="%22Vilboux+T%22">Vilboux T</searchLink><br /><searchLink fieldCode="AU" term="%22O'Brien+K%22">O'Brien K</searchLink><br /><searchLink fieldCode="AU" term="%22Curry+JA%22">Curry JA</searchLink><br /><searchLink fieldCode="AU" term="%22Maynard+DM%22">Maynard DM</searchLink><br /><searchLink fieldCode="AU" term="%22Carlson-Donohoe+H%22">Carlson-Donohoe H</searchLink><br /><searchLink fieldCode="AU" term="%22Ciccone+C%22">Ciccone C</searchLink><br /><searchLink fieldCode="AU" term="%22Markello+TC%22">Markello TC</searchLink><br /><searchLink fieldCode="AU" term="%22Gunay-Aygun+M%22">Gunay-Aygun M</searchLink><br /><searchLink fieldCode="AU" term="%22Huizing+M%22">Huizing M</searchLink><br /><searchLink fieldCode="AU" term="%22Gahl+WA%22">Gahl WA</searchLink>
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  Data: <searchLink fieldCode="CA" term="%22NISC+Comparative+Sequencing+Program%22">NISC Comparative Sequencing Program</searchLink>
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  Data: <searchLink fieldCode="JN" term="%220426720%22">The Journal of investigative dermatology</searchLink> [J Invest Dermatol] 2011 Oct; Vol. 131 (10), pp. 2017-25. <i>Date of Electronic Publication: </i>2011 Jun 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0426720 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1523-1747 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%220022202X%22">0022202X </searchLink><i>NLM ISO Abbreviation: </i>J Invest Dermatol <i>Subsets: </i>MEDLINE
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        Value: 10.1038/jid.2011.157
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        StartPage: 2017
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      – TitleFull: 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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