Germline

التفاصيل البيبلوغرافية
العنوان: Germline
المؤلفون: Michal, Kovac, Connor, Woolley, Sebastian, Ribi, Claudia, Blattmann, Eva, Roth, Marco, Morini, Monika, Kovacova, Baptiste, Ameline, Andreas, Kulozik, Stefan, Bielack, Wolfgang, Hartmann, Mandy L, Ballinger, David M, Thomas, Ian, Tomlinson, Michaela, Nathrath, Karl, Heinimann, Daniel, Baumhoer
المصدر: Journal of medical genetics. 58(1)
سنة النشر: 2019
مصطلحات موضوعية: Adult, Male, Osteosarcoma, Ubiquitin-Protein Ligases, Proto-Oncogene Proteins c-ret, Pediatrics, Proto-Oncogene Mas, Carcinoma, Neuroendocrine, Retinoblastoma Binding Proteins, Humans, Female, Genetic Predisposition to Disease, Thyroid Neoplasms, Tumor Suppressor Protein p53, Germ-Line Mutation, Aged
الوصف: Although considerable effort has been put into decoding of the osteosarcoma genome, very little is known about germline mutations that underlie this primary malignant tumour of bone.We followed here a coincidental finding in a multiple endocrine neoplasia family in which a 32-year-old patient carrying a germline pathogenicAfter Li-Fraumeni-predisposing mutations in
تدمد: 1468-6244
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7704f7cb01c680417a2d2c885535832b
https://pubmed.ncbi.nlm.nih.gov/32179705
رقم الأكسشن: edsair.pmid..........7704f7cb01c680417a2d2c885535832b
قاعدة البيانات: OpenAIRE