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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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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2015
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| Assuntos: | |
| Acesso em linha: | 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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