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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.

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Title: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
Authors: Bowne SJ; Human Genetics Center, The University of Texas Health Science Center, Houston, TX, USA., Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Oct; Vol. 19 (10), pp. 1074-81. Date of Electronic Publication: 2011 Jun 08.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
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  Data: <searchLink fieldCode="AU" term="%22Bowne+SJ%22">Bowne SJ</searchLink>; Human Genetics Center, The University of Texas Health Science Center, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Humphries+MM%22">Humphries MM</searchLink><br /><searchLink fieldCode="AU" term="%22Sullivan+LS%22">Sullivan LS</searchLink><br /><searchLink fieldCode="AU" term="%22Kenna+PF%22">Kenna PF</searchLink><br /><searchLink fieldCode="AU" term="%22Tam+LC%22">Tam LC</searchLink><br /><searchLink fieldCode="AU" term="%22Kiang+AS%22">Kiang AS</searchLink><br /><searchLink fieldCode="AU" term="%22Campbell+M%22">Campbell M</searchLink><br /><searchLink fieldCode="AU" term="%22Weinstock+GM%22">Weinstock GM</searchLink><br /><searchLink fieldCode="AU" term="%22Koboldt+DC%22">Koboldt DC</searchLink><br /><searchLink fieldCode="AU" term="%22Ding+L%22">Ding L</searchLink><br /><searchLink fieldCode="AU" term="%22Fulton+RS%22">Fulton RS</searchLink><br /><searchLink fieldCode="AU" term="%22Sodergren+EJ%22">Sodergren EJ</searchLink><br /><searchLink fieldCode="AU" term="%22Allman+D%22">Allman D</searchLink><br /><searchLink fieldCode="AU" term="%22Millington-Ward+S%22">Millington-Ward S</searchLink><br /><searchLink fieldCode="AU" term="%22Palfi+A%22">Palfi A</searchLink><br /><searchLink fieldCode="AU" term="%22McKee+A%22">McKee A</searchLink><br /><searchLink fieldCode="AU" term="%22Blanton+SH%22">Blanton SH</searchLink><br /><searchLink fieldCode="AU" term="%22Slifer+S%22">Slifer S</searchLink><br /><searchLink fieldCode="AU" term="%22Konidari+I%22">Konidari I</searchLink><br /><searchLink fieldCode="AU" term="%22Farrar+GJ%22">Farrar GJ</searchLink><br /><searchLink fieldCode="AU" term="%22Daiger+SP%22">Daiger SP</searchLink><br /><searchLink fieldCode="AU" term="%22Humphries+P%22">Humphries P</searchLink>
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2011 Oct; Vol. 19 (10), pp. 1074-81. <i>Date of Electronic Publication: </i>2011 Jun 08.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
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