A novel RAB33B mutation in Smith-McCort dysplasia.
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| Title: | A novel RAB33B mutation in Smith-McCort dysplasia. |
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| 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 |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 23042644 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A novel RAB33B mutation in Smith-McCort dysplasia. – Name: Author Label: Authors Group: Au 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> – Name: TitleSource Label: Source Group: Src 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. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src 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 |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=23042644 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/humu.22235 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 283 Titles: – TitleFull: A novel RAB33B mutation in Smith-McCort dysplasia. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Dupuis N – PersonEntity: Name: NameFull: Lebon S – PersonEntity: Name: NameFull: Kumar M – PersonEntity: Name: NameFull: Drunat S – PersonEntity: Name: NameFull: Graul-Neumann LM – PersonEntity: Name: NameFull: Gressens P – PersonEntity: Name: NameFull: El Ghouzzi V IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2013 Feb Type: published Y: 2013 Identifiers: – Type: issn-electronic Value: 1098-1004 Numbering: – Type: volume Value: 34 – Type: issue Value: 2 Titles: – TitleFull: Human mutation Type: main |
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