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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
Gaillard, Marie-Cécile; Puppo, Francesca; Roche, Stéphane; Dion, Camille; Campana, Emmanuelle Salort; Mariot, Virginie; Chaix, Charlene; Vovan, Catherine; Mazaleyrat, Killian; Tasmadjian, Armand; Bernard, Rafaelle; Dumonceaux, Julie; Attarian, Shahram; Lévy, Nicolas; Nguyen, Karine; Magdinier, Frédérique; Bartoli, Marc.
Afiliação
  • Gaillard MC; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
  • Puppo F; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
  • Roche S; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
  • Dion C; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
  • Campana ES; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
  • Mariot V; APHM, Centre de Référence des Maladies Neuromusculaires et de la SLA, Hôpital de la Timone, Marseille, 13385, France.
  • Chaix C; Center of Research in Myology/ Institut de Myologie UMR974 - UPMC Université Paris 6/ Inserm /FRE3617- CNRS, Groupement Hospitalier de la Pitié Salpétrière, Paris, Cedex 13, France.
  • Vovan C; APHM, Laboratoire de Génétique Médicale, Hôpital de la Timone, Marseille, 13385, France.
  • Mazaleyrat K; APHM, Laboratoire de Génétique Médicale, Hôpital de la Timone, Marseille, 13385, France.
  • Tasmadjian A; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
  • Bernard R; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
  • Dumonceaux J; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
  • Attarian S; APHM, Laboratoire de Génétique Médicale, Hôpital de la Timone, Marseille, 13385, France.
  • Lévy N; Center of Research in Myology/ Institut de Myologie UMR974 - UPMC Université Paris 6/ Inserm /FRE3617- CNRS, Groupement Hospitalier de la Pitié Salpétrière, Paris, Cedex 13, France.
  • Nguyen K; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
  • Magdinier F; APHM, Centre de Référence des Maladies Neuromusculaires et de la SLA, Hôpital de la Timone, Marseille, 13385, France.
  • Bartoli M; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
BMC Med Genet ; 17(1): 66, 2016 Sep 15.
Article em En | MEDLINE | ID: mdl-27634379
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Repetições de Microssatélites / Metilação de DNA / Distrofia Muscular Facioescapuloumeral / Mutação Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Repetições de Microssatélites / Metilação de DNA / Distrofia Muscular Facioescapuloumeral / Mutação Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article