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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Bibliographische Detailangaben
Veröffentlicht in:Front Genet
Hauptverfasser: Setrajcic Dragos, Vita, Blatnik, Ana, Klancar, Gasper, Stegel, Vida, Krajc, Mateja, Blatnik, Olga, Novakovic, Srdjan
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2019
Schlagworte:
Genetics
Online Zugang: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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