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Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

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Title: Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
Authors: Lebrun AH; Department of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Storch S, Rüschendorf F, Schmiedt ML, Kyttälä A, Mole SE, Kitzmüller C, Saar K, Mewasingh LD, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A
Source: Human mutation [Hum Mutat] 2009 May; Vol. 30 (5), pp. E651-61.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
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  Data: <searchLink fieldCode="AU" term="%22Lebrun+AH%22">Lebrun AH</searchLink>; Department of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Storch+S%22">Storch S</searchLink><br /><searchLink fieldCode="AU" term="%22Rüschendorf+F%22">Rüschendorf F</searchLink><br /><searchLink fieldCode="AU" term="%22Schmiedt+ML%22">Schmiedt ML</searchLink><br /><searchLink fieldCode="AU" term="%22Kyttälä+A%22">Kyttälä A</searchLink><br /><searchLink fieldCode="AU" term="%22Mole+SE%22">Mole SE</searchLink><br /><searchLink fieldCode="AU" term="%22Kitzmüller+C%22">Kitzmüller C</searchLink><br /><searchLink fieldCode="AU" term="%22Saar+K%22">Saar K</searchLink><br /><searchLink fieldCode="AU" term="%22Mewasingh+LD%22">Mewasingh LD</searchLink><br /><searchLink fieldCode="AU" term="%22Boda+V%22">Boda V</searchLink><br /><searchLink fieldCode="AU" term="%22Kohlschütter+A%22">Kohlschütter A</searchLink><br /><searchLink fieldCode="AU" term="%22Ullrich+K%22">Ullrich K</searchLink><br /><searchLink fieldCode="AU" term="%22Braulke+T%22">Braulke T</searchLink><br /><searchLink fieldCode="AU" term="%22Schulz+A%22">Schulz A</searchLink>
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2009 May; Vol. 30 (5), pp. E651-61.
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  Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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        Value: 10.1002/humu.21010
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      – Code: eng
        Text: English
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        StartPage: E651
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      – TitleFull: Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
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              Text: 2009 May
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              Y: 2009
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