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Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
Lemmers, Richard J L F; van der Vliet, Patrick J; Vreijling, Jeroen P; Henderson, Don; van der Stoep, Nienke; Voermans, Nicol; van Engelen, Baziel; Baas, Frank; Sacconi, Sabrina; Tawil, Rabi; van der Maarel, Silvère M.
Afiliação
  • Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Vreijling JP; Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, RC, Netherlands.
  • Henderson D; Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
  • van der Stoep N; Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, RC, Netherlands.
  • Voermans N; Neuromuscular Centre Nijmegen, Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, HB, Netherlands.
  • van Engelen B; Neuromuscular Centre Nijmegen, Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, HB, Netherlands.
  • Baas F; Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, RC, Netherlands.
  • Sacconi S; Centre de Référence des Maladies Neuromusculaires and CNRS UMR6543, Nice University Hospital, Nice, France.
  • Tawil R; Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
  • van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Hum Mol Genet ; 27(20): 3488-3497, 2018 10 15.
Article em En | MEDLINE | ID: mdl-30281091
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Sequências Repetitivas de Ácido Nucleico / Proteínas de Homeodomínio / Distrofia Muscular Facioescapuloumeral / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Sequências Repetitivas de Ácido Nucleico / Proteínas de Homeodomínio / Distrofia Muscular Facioescapuloumeral / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article