126 novel mutations in Italian patients with neurofibromatosis type 1

Genetic analysis of Neurofibromatosis type 1 (NF1) may facilitate the identification of patients in early phases of the disease. Here, we present an overview of our diagnostic research spanning the last 11 years, with a focus on the description of 225 NF1 mutations, 126 of which are novel, found in...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Bianchessi, Donatella, Morosini, Sara, Saletti, Veronica, Ibba, Maria Cristina, Natacci, Federica, Esposito, Silvia, Cesaretti, Claudia, Riva, Daria, Finocchiaro, Gaetano, Eoli, Marica
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2015
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4694136/
https://ncbi.nlm.nih.gov/pubmed/26740943
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.161
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