Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

Neurofibromatosis type-1 (NF1), caused by heterozygous inactivation of the NF1 tumour suppressor gene, is associated with the development of benign and malignant peripheral nerve sheath tumours (MPNSTs). Although numerous germline NF1 mutations have been identified, relatively few somatic NF1 mutati...

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Hlavní autoři: Thomas, Laura, Spurlock, Gill, Eudall, Claire, Thomas, Nick S, Mort, Matthew, Hamby, Stephen E, Chuzhanova, Nadia, Brems, Hilde, Legius, Eric, Cooper, David N, Upadhyaya, Meena
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3306856/
https://ncbi.nlm.nih.gov/pubmed/22108604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.207
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