Germline and somatic<i>NF1</i>gene mutations in plexiform neurofibromas
Neurofibromatosis type 1 (NF1), a common autosomal dominant neurogenetic disorder affecting 1 in 4000 individuals worldwide, results from functional inactivation of the 17q11.2-located NF1 gene. Plexiform neurofibroma (PNF) is a congenital benign tumour present in 30-50% of NF1 patients, which in ab...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | 英語 |
| 出版事項: |
2008
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| オンライン･アクセス: | https://doi.org/10.1002/humu.20793 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.20793 |
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