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. |
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| 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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