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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Main Authors: Meena Upadhyaya, Gill Spurlock, Bisma Monem, Nick Thomas, Reinhard E. Friedrich, Lan Kluwe, Victor Mautner
格式: Artigo
语言:英语
出版: 2008
在线阅读:https://doi.org/10.1002/humu.20793
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.20793
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