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Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

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Title: Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
Authors: DeLuca AP; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences., Whitmore SS; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences., Barnes J; Department of Biology., Sharma TP; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences., Westfall TA; Department of Biology., Scott CA; Department of Biology., Weed MC; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences., Wiley JS; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences., Wiley LA; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences., Johnston RM; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences., Schnieders MJ; The Stephen A. Wynn Institute for Vision Research, Department of Biomedical Engineering, Department of Biochemistry, and., Lentz SR; Department of Internal Medicine; The University of Iowa, Iowa City, IA, USA., Tucker BA; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences., Mullins RF; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences., Scheetz TE; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Department of Biomedical Engineering., Stone EM; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences., Slusarski DC; The Stephen A. Wynn Institute for Vision Research, Department of Biology, diane-slusarski@uiowa.edu.
Source: Human molecular genetics [Hum Mol Genet] 2016 Jan 01; Vol. 25 (1), pp. 44-56. Date of Electronic Publication: 2015 Oct 22.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
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  Data: <searchLink fieldCode="AU" term="%22DeLuca+AP%22">DeLuca AP</searchLink>; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences.<br /><searchLink fieldCode="AU" term="%22Whitmore+SS%22">Whitmore SS</searchLink>; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences.<br /><searchLink fieldCode="AU" term="%22Barnes+J%22">Barnes J</searchLink>; Department of Biology.<br /><searchLink fieldCode="AU" term="%22Sharma+TP%22">Sharma TP</searchLink>; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences.<br /><searchLink fieldCode="AU" term="%22Westfall+TA%22">Westfall TA</searchLink>; Department of Biology.<br /><searchLink fieldCode="AU" term="%22Scott+CA%22">Scott CA</searchLink>; Department of Biology.<br /><searchLink fieldCode="AU" term="%22Weed+MC%22">Weed MC</searchLink>; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences.<br /><searchLink fieldCode="AU" term="%22Wiley+JS%22">Wiley JS</searchLink>; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences.<br /><searchLink fieldCode="AU" term="%22Wiley+LA%22">Wiley LA</searchLink>; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences.<br /><searchLink fieldCode="AU" term="%22Johnston+RM%22">Johnston RM</searchLink>; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences.<br /><searchLink fieldCode="AU" term="%22Schnieders+MJ%22">Schnieders MJ</searchLink>; The Stephen A. Wynn Institute for Vision Research, Department of Biomedical Engineering, Department of Biochemistry, and.<br /><searchLink fieldCode="AU" term="%22Lentz+SR%22">Lentz SR</searchLink>; Department of Internal Medicine; The University of Iowa, Iowa City, IA, USA.<br /><searchLink fieldCode="AU" term="%22Tucker+BA%22">Tucker BA</searchLink>; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences.<br /><searchLink fieldCode="AU" term="%22Mullins+RF%22">Mullins RF</searchLink>; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences.<br /><searchLink fieldCode="AU" term="%22Scheetz+TE%22">Scheetz TE</searchLink>; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Department of Biomedical Engineering.<br /><searchLink fieldCode="AU" term="%22Stone+EM%22">Stone EM</searchLink>; The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences.<br /><searchLink fieldCode="AU" term="%22Slusarski+DC%22">Slusarski DC</searchLink>; The Stephen A. Wynn Institute for Vision Research, Department of Biology, diane-slusarski@uiowa.edu.
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  Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2016 Jan 01; Vol. 25 (1), pp. 44-56. <i>Date of Electronic Publication: </i>2015 Oct 22.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE
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