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Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder caused by mutations in the NF1 gene. One of the hallmarks of NF1 is the high mutation rate in this gene. In this study, we present 127 different NF1 mutations and 54 novel mutations detected at both the genomic DNA and mR...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4072343/ https://www.ncbi.nlm.nih.gov/pubmed/24789688 http://dx.doi.org/10.3892/ijmm.2014.1756 |