Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.
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| Title: | Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. |
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| Authors: | Cottrell CE; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA., Mendell J, Hart-Kothari M, Ell D, Thrush DL, Astbury C, Pastore M, Gastier-Foster JM, Pyatt RE |
| Source: | Clinical genetics [Clin Genet] 2012 Jun; Vol. 81 (6), pp. 578-83. Date of Electronic Publication: 2011 May 04. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 21480868 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Cottrell+CE%22">Cottrell CE</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.<br /><searchLink fieldCode="AU" term="%22Mendell+J%22">Mendell J</searchLink><br /><searchLink fieldCode="AU" term="%22Hart-Kothari+M%22">Hart-Kothari M</searchLink><br /><searchLink fieldCode="AU" term="%22Ell+D%22">Ell D</searchLink><br /><searchLink fieldCode="AU" term="%22Thrush+DL%22">Thrush DL</searchLink><br /><searchLink fieldCode="AU" term="%22Astbury+C%22">Astbury C</searchLink><br /><searchLink fieldCode="AU" term="%22Pastore+M%22">Pastore M</searchLink><br /><searchLink fieldCode="AU" term="%22Gastier-Foster+JM%22">Gastier-Foster JM</searchLink><br /><searchLink fieldCode="AU" term="%22Pyatt+RE%22">Pyatt RE</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2012 Jun; Vol. 81 (6), pp. 578-83. <i>Date of Electronic Publication: </i>2011 May 04. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=21480868 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/j.1399-0004.2011.01681.x Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 578 Titles: – TitleFull: Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Cottrell CE – PersonEntity: Name: NameFull: Mendell J – PersonEntity: Name: NameFull: Hart-Kothari M – PersonEntity: Name: NameFull: Ell D – PersonEntity: Name: NameFull: Thrush DL – PersonEntity: Name: NameFull: Astbury C – PersonEntity: Name: NameFull: Pastore M – PersonEntity: Name: NameFull: Gastier-Foster JM – PersonEntity: Name: NameFull: Pyatt RE IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2012 Jun Type: published Y: 2012 Identifiers: – Type: issn-electronic Value: 1399-0004 Numbering: – Type: volume Value: 81 – Type: issue Value: 6 Titles: – TitleFull: Clinical genetics Type: main |
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