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Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
Calmels, Nadege; Botta, Elena; Jia, Nan; Fawcett, Heather; Nardo, Tiziana; Nakazawa, Yuka; Lanzafame, Manuela; Moriwaki, Shinichi; Sugita, Katsuo; Kubota, Masaya; Obringer, Cathy; Spitz, Marie-Aude; Stefanini, Miria; Laugel, Vincent; Orioli, Donata; Ogi, Tomoo; Lehmann, Alan Robert.
Afiliación
  • Calmels N; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Strasbourg, France.
  • Botta E; Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, Pavia, Italy.
  • Jia N; Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan.
  • Fawcett H; Genome Damage and Stability Centre, University of Sussex, Brighton, UK.
  • Nardo T; Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, Pavia, Italy.
  • Nakazawa Y; Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan.
  • Lanzafame M; Nagasaki University Research Centre for Genomic Instability and Carcinogenesis (NRGIC), Nagasaki, Japan.
  • Moriwaki S; Department of Genome Repair, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.
  • Sugita K; Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, Pavia, Italy.
  • Kubota M; Departmentof Dermatology, Osaka Medical College, Takatsuki, Japan.
  • Obringer C; Division of Child Health, Faculty of Education, Chiba University, Chiba, Japan.
  • Spitz MA; Division of Neurology, National Center for Child Health and Development, Tokyo, France.
  • Stefanini M; Faculté de Médecine, Laboratoire de Génétique Médicale, Strasbourg, France.
  • Laugel V; Départementde Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Orioli D; Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, Pavia, Italy.
  • Ogi T; Faculté de Médecine, Laboratoire de Génétique Médicale, Strasbourg, France.
  • Lehmann AR; Départementde Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
J Med Genet ; 55(5): 329-343, 2018 05.
Article en En | MEDLINE | ID: mdl-29572252
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos por Fotosensibilidad / Factores de Transcripción / Síndrome de Cockayne / ADN Helicasas / Enzimas Reparadoras del ADN / Proteínas de Unión a Poli-ADP-Ribosa Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: J Med Genet Año: 2018 Tipo del documento: Article País de afiliación: Francia
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos por Fotosensibilidad / Factores de Transcripción / Síndrome de Cockayne / ADN Helicasas / Enzimas Reparadoras del ADN / Proteínas de Unión a Poli-ADP-Ribosa Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: J Med Genet Año: 2018 Tipo del documento: Article País de afiliación: Francia