المؤلفون: 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.; Manchester Academic Health Science Centre, Manchester, UK., Chandler K; Manchester Academic Health Science Centre, Manchester, UK.; Department of Genetic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK., Minnis M; Manchester Academic Health Science Centre, Manchester, UK.; Department of Genetic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK., Castleton A; Department of Paediatric and Adolescent Oncology, The Christie NHS Foundation Trust, Manchester, UK., Higham C; Department of Paediatric and Adolescent Oncology, The Christie NHS Foundation Trust, Manchester, UK.; Centre for Endocrinology and Diabetes, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK., Hopewell L; Department of Paediatric and Adolescent Oncology, The Christie NHS Foundation Trust, Manchester, UK., Gareth Evans D; Department of Genetic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK., Raams A; Department of Molecular Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Theil AF; Department of Molecular Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Meyer S; Manchester Academic Health Science Centre, Manchester, UK. stefan.meyer@manchester.ac.uk.; Department of Paediatric and Adolescent Oncology, The Christie NHS Foundation Trust, Manchester, UK. stefan.meyer@manchester.ac.uk.; Stem Cell and Leukaemia Proteomics Laboratory, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK. stefan.meyer@manchester.ac.uk.; Department of Paediatric and Adolescent Oncology, Royal Manchester Children's Hospital, Manchester, UK. stefan.meyer@manchester.ac.uk.; Paediatric and Adolescent Oncology, Division of Cancer Sciences, University of Manchester, c/o Young Oncology Unit, Christie Hospital, Wilmslow Road, Manchester, M20 6XB, UK. stefan.meyer@manchester.ac.uk., Schindler D; Department of Human Genetics, Biozentrum, University of Wurzburg, Am Hubland, 97074, Wurzburg, Germany. schindler@biozentrum.uni-wuerzburg.de.

المصدر: BMC medical genetics [BMC Med Genet] 2018 Jan 11; Vol. 19 (1), pp. 7. Date of Electronic Publication: 2018 Jan 11.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, DNA-Binding Proteins/*genetics , Fanconi Anemia/*genetics , Photosensitivity Disorders/*genetics, Amino Acid Sequence ; Cell Line ; Cell Line, Tumor ; DNA Damage ; DNA Repair ; Fanconi Anemia/diagnosis ; Female ; Fibroblasts ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Middle Aged ; Photosensitivity Disorders/diagnosis ; Solar System