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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Bibliografische gegevens
Gepubliceerd in:Front Genet
Hoofdauteurs: Setrajcic Dragos, Vita, Blatnik, Ana, Klancar, Gasper, Stegel, Vida, Krajc, Mateja, Blatnik, Olga, Novakovic, Srdjan
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2019
Onderwerpen:
Genetics
Online toegang: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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