Ontology highlight
ABSTRACT:
SUBMITTER: Bonatti F
PROVIDER: S-EPMC5666753 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Bonatti Francesco F Adorni Alessia A Matichecchia Annalisa A Mozzoni Paola P Uliana Vera V Pisani Francesco F Garavelli Livia L Graziano Claudio C Gnoli Maria M Carli Diana D Bigoni Stefania S Boschi Elena E Martorana Davide D Percesepe Antonio A
International journal of molecular sciences 20170929 10
Neurofibromatosis type I, a genetic disorder due to mutations in the <i>NF1</i> gene, is characterized by a high mutation rate (about 50% of the cases are de novo) but, with the exception of whole gene deletions associated with a more severe phenotype, no specific hotspots and few solid genotype/phenotype correlations. After retrospectively re-evaluating all <i>NF1</i> gene variants found in the diagnostic activity, we studied 108 patients affected by neurofibromatosis type I who harbored mutati ...[more]