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Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

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Title: Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.
Authors: Sun M; Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA
Source: Human molecular genetics [Hum Mol Genet] 2000 Oct 12; Vol. 9 (17), pp. 2471-8.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Sun+M%22">Sun M</searchLink>; Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Goldin+E%22">Goldin E</searchLink><br /><searchLink fieldCode="AU" term="%22Stahl+S%22">Stahl S</searchLink><br /><searchLink fieldCode="AU" term="%22Falardeau+JL%22">Falardeau JL</searchLink><br /><searchLink fieldCode="AU" term="%22Kennedy+JC%22">Kennedy JC</searchLink><br /><searchLink fieldCode="AU" term="%22Acierno+JS+Jr%22">Acierno JS Jr</searchLink><br /><searchLink fieldCode="AU" term="%22Bove+C%22">Bove C</searchLink><br /><searchLink fieldCode="AU" term="%22Kaneski+CR%22">Kaneski CR</searchLink><br /><searchLink fieldCode="AU" term="%22Nagle+J%22">Nagle J</searchLink><br /><searchLink fieldCode="AU" term="%22Bromley+MC%22">Bromley MC</searchLink><br /><searchLink fieldCode="AU" term="%22Colman+M%22">Colman M</searchLink><br /><searchLink fieldCode="AU" term="%22Schiffmann+R%22">Schiffmann R</searchLink><br /><searchLink fieldCode="AU" term="%22Slaugenhaupt+SA%22">Slaugenhaupt SA</searchLink>
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  Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2000 Oct 12; Vol. 9 (17), pp. 2471-8.
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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 <i>Cited Medium: </i>Print <i>ISSN: </i>0964-6906 (Print) <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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              Text: 2000 Oct 12
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