A novel RAB33B mutation in Smith-McCort dysplasia.

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Title: A novel RAB33B mutation in Smith-McCort dysplasia.
Authors: Dupuis N; Inserm, U676, Paris, France., Lebon S, Kumar M, Drunat S, Graul-Neumann LM, Gressens P, El Ghouzzi V
Source: Human mutation [Hum Mutat] 2013 Feb; Vol. 34 (2), pp. 283-6. Date of Electronic Publication: 2012 Nov 08.
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-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: A novel RAB33B mutation in Smith-McCort dysplasia.
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  Data: <searchLink fieldCode="AU" term="%22Dupuis+N%22">Dupuis N</searchLink>; Inserm, U676, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lebon+S%22">Lebon S</searchLink><br /><searchLink fieldCode="AU" term="%22Kumar+M%22">Kumar M</searchLink><br /><searchLink fieldCode="AU" term="%22Drunat+S%22">Drunat S</searchLink><br /><searchLink fieldCode="AU" term="%22Graul-Neumann+LM%22">Graul-Neumann LM</searchLink><br /><searchLink fieldCode="AU" term="%22Gressens+P%22">Gressens P</searchLink><br /><searchLink fieldCode="AU" term="%22El+Ghouzzi+V%22">El Ghouzzi V</searchLink>
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2013 Feb; Vol. 34 (2), pp. 283-6. <i>Date of Electronic Publication: </i>2012 Nov 08.
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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-Electronic <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.22235
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      – Code: eng
        Text: English
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        StartPage: 283
    Titles:
      – TitleFull: A novel RAB33B mutation in Smith-McCort dysplasia.
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            NameFull: Dupuis N
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            NameFull: Lebon S
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            NameFull: Kumar M
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            NameFull: Drunat S
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            NameFull: Graul-Neumann LM
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              Text: 2013 Feb
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              Y: 2013
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