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.
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
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  Data: Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.
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  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>
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  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.
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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>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
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              Text: 2012 Jun
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