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Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
Popp, Isabell; Punekar, Maqsood; Telford, Nick; Stivaros, Stavros; Chandler, Kate; Minnis, Meenakshi; Castleton, Anna; Higham, Claire; Hopewell, Louise; Gareth Evans, D; Raams, Anja; Theil, Arjan F; Meyer, Stefan; Schindler, Detlev.
Afiliação
  • Popp I; Department of Human Genetics, Biozentrum, University of Wurzburg, Am Hubland, 97074, Wurzburg, Germany.
  • Punekar M; Lancashire Teaching Hospitals NHS Foundation Trust, Preston, UK.
  • Telford N; Oncology Cytogenetics, The Christie NHS Foundation Trust, Manchester, UK.
  • Stivaros S; Institute of Population Health, Centre for Imaging Sciences, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
  • Chandler K; Manchester Academic Health Science Centre, Manchester, UK.
  • Minnis M; Manchester Academic Health Science Centre, Manchester, UK.
  • Castleton A; Department of Genetic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK.
  • Higham C; Manchester Academic Health Science Centre, Manchester, UK.
  • Hopewell L; Department of Genetic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK.
  • Gareth Evans D; Department of Paediatric and Adolescent Oncology, The Christie NHS Foundation Trust, Manchester, UK.
  • Raams A; Department of Paediatric and Adolescent Oncology, The Christie NHS Foundation Trust, Manchester, UK.
  • Theil AF; Centre for Endocrinology and Diabetes, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
  • Meyer S; Department of Paediatric and Adolescent Oncology, The Christie NHS Foundation Trust, Manchester, UK.
  • Schindler D; Department of Genetic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK.
BMC Med Genet ; 19(1): 7, 2018 01 11.
Article em En | MEDLINE | ID: mdl-29325523
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos de Fotossensibilidade / Mutação de Sentido Incorreto / Proteínas de Ligação a DNA / Anemia de Fanconi Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Middle aged Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos de Fotossensibilidade / Mutação de Sentido Incorreto / Proteínas de Ligação a DNA / Anemia de Fanconi Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Middle aged Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido