Two Novel NF1 Pathogenic Variants Causing the Creation of a New Splice Site in Patients With Neurofibromatosis Type I

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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Bibliographic Details
Main Authors: Vita Setrajcic Dragos, Ana Blatnik, Gasper Klancar, Vida Stegel, Mateja Krajc, Olga Blatnik, Srdjan Novakovic
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-08-01
Series:Frontiers in Genetics
Subjects:
NF1
splicing
mRNA
functional analysis
NGS
neurofibromatosis type I
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00762/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.00762/full

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