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NF1 truncating mutations associated to aggressive clinical phenotype with elephantiasis neuromatosa and solid malignancies.

Authors
  • Ponti, Giovanni
  • Martorana, Davide
  • Pellacani, Giovanni
  • Ruini, Cristel
  • Loschi, Pietro
  • Baccarani, Alessio
  • De Santis, Giorgio
  • Pollio, Annamaria
  • Neri, Tauro Maria
  • Mandel, Victor Desmond
  • Maiorana, Antonio
  • Maccio, Livia
  • Maccaferri, Monia
  • Tomasi, Aldo
Type
Published Article
Journal
Anticancer Research
Publisher
International Institute of Anticancer Research
Publication Date
Jun 01, 2014
Volume
34
Issue
6
Pages
3021–3030
Identifiers
PMID: 24922668
Source
Medline
Keywords
License
Unknown

Abstract

This effect on protein synthesis, rather than the type of NF1 mutation, is the key to the explanation of the genotype-phenotype correlations in the context of neurofibromatosis type 1.

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