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A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Nicolle, Romain; Altin, Nami; Siquier-Pernet, Karine; Salignac, Sherlina; Blanc, Pierre; Munnich, Arnold; Bole-Feysot, Christine; Malan, Valérie; Caron, Barthélémy; Nitschké, Patrick; Desguerre, Isabelle; Boddaert, Nathalie; Rio, Marlène; Rausell, Antonio; Cantagrel, Vincent.
Afiliação
  • Nicolle R; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.
  • Altin N; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, 75015, France.
  • Siquier-Pernet K; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.
  • Salignac S; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.
  • Blanc P; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.
  • Munnich A; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.
  • Bole-Feysot C; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, AP-HP, Necker Hospital for Sick Children, Paris, 75015, France.
  • Malan V; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, AP-HP, Necker Hospital for Sick Children, Paris, 75015, France.
  • Caron B; Genomics Platform, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, 75015, France.
  • Nitschké P; Developmental Brain Disorders Laboratory, Université Paris Cité, INSERM UMR1163, Imagine Institute, 75015, Paris, France.
  • Desguerre I; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, AP-HP, Necker Hospital for Sick Children, Paris, 75015, France.
  • Boddaert N; Clinical Bioinformatics Laboratory, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, 75015, France.
  • Rio M; Bioinformatics Core Facility, Université Paris Cité, INSERM UMR 1163, Imagine Institute, 75015, Paris, France.
  • Rausell A; Département de Neurologie Pédiatrique, AP-HP, Necker Hospital for Sick Children, 75015, Paris, France.
  • Cantagrel V; Département de Radiologie Pédiatrique, AP-HP, Necker Hospital for Sick Children and Université Paris Cité, INSERM UMR 1163 and INSERM U1299, Imagine Institute, Paris, 75015, France.
BMC Med Genomics ; 16(1): 143, 2023 06 21.
Article em En | MEDLINE | ID: mdl-37344844
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Arginina-tRNA Ligase / Atrofias Olivopontocerebelares / Doenças Cerebelares Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Arginina-tRNA Ligase / Atrofias Olivopontocerebelares / Doenças Cerebelares Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article