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Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.

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Title: Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.
Authors: Vermeer MCSC; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Andrei D; Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Kramer D; Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Nijenhuis AM; Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Hoedemaekers YM; Department of Genetics, Radboud University Medical Center, Radboud University Nijmegen, Nijmegen, The Netherlands., Westers H; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Jongbloed JDH; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Pas HH; Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., van den Berg MP; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Silljé HHW; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., van der Meer P; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Bolling MC; Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Source: Experimental dermatology [Exp Dermatol] 2022 Jun; Vol. 31 (6), pp. 970-979. Date of Electronic Publication: 2022 Apr 01.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9301549 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0625 (Electronic) Linking ISSN: 09066705 NLM ISO Abbreviation: Exp Dermatol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.
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  Data: <searchLink fieldCode="AU" term="%22Vermeer+MCSC%22">Vermeer MCSC</searchLink>; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Andrei+D%22">Andrei D</searchLink>; Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kramer+D%22">Kramer D</searchLink>; Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Nijenhuis+AM%22">Nijenhuis AM</searchLink>; Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoedemaekers+YM%22">Hoedemaekers YM</searchLink>; Department of Genetics, Radboud University Medical Center, Radboud University Nijmegen, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Westers+H%22">Westers H</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Jongbloed+JDH%22">Jongbloed JDH</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Pas+HH%22">Pas HH</searchLink>; Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+den+Berg+MP%22">van den Berg MP</searchLink>; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Silljé+HHW%22">Silljé HHW</searchLink>; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Meer+P%22">van der Meer P</searchLink>; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bolling+MC%22">Bolling MC</searchLink>; Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%229301549%22">Experimental dermatology</searchLink> [Exp Dermatol] 2022 Jun; Vol. 31 (6), pp. 970-979. <i>Date of Electronic Publication: </i>2022 Apr 01.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>9301549 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1600-0625 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209066705%22">09066705 </searchLink><i>NLM ISO Abbreviation: </i>Exp Dermatol <i>Subsets: </i>MEDLINE
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