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Two Novel NF1 Pathogenic Variants Causing the Creation of a New Splice Site in Patients With Neurofibromatosis Type I
Neurofibromatosis type I (NF1) is one of the most common autosomal dominant disorders, since the estimated incidence is one in 3,500 births. In this study, we present bioinformatical and functional characterization of two novel splicing NF1 variants, detected in NF1 patients. Patient 1, carrying NF1...
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| הוצא לאור ב: | Front Genet |
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| Main Authors: | , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Frontiers Media S.A.
2019
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6714493/ https://ncbi.nlm.nih.gov/pubmed/31507634 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00762 |
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