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Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
Metodiev, Metodi D; Assouline, Zahra; Landrieu, Pierre; Chretien, Dominique; Bader-Meunier, Brigitte; Guitton, Corinne; Munnich, Arnold; Rötig, Agnès.
Afiliação
  • Metodiev MD; INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France.
  • Assouline Z; Department of Genetics, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.
  • Landrieu P; INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France.
  • Chretien D; INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France.
  • Bader-Meunier B; Department of Pediatric Immunology and Rheumatology, INSERM U768, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.
  • Guitton C; Service de Pédiatrie Générale, Hématologie et Rhumatologie Pédiatrique, GHU Paris-Sud - Hôpital de Bicêtre, 78 Rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, France.
  • Munnich A; 1] INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France [2] Department of Genetics, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.
  • Rötig A; INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France.
Eur J Hum Genet ; 23(6): 880-2, 2015 Jun.
Article em En | MEDLINE | ID: mdl-25227147
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome MELAS / Mutação de Sentido Incorreto / Hidroliases Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome MELAS / Mutação de Sentido Incorreto / Hidroliases Idioma: En Ano de publicação: 2015 Tipo de documento: Article