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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Detalles Bibliográficos
Autores principales: Setrajcic Dragos, Vita, Blatnik, Ana, Klancar, Gasper, Stegel, Vida, Krajc, Mateja, Blatnik, Olga, Novakovic, Srdjan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714493/
https://www.ncbi.nlm.nih.gov/pubmed/31507634
http://dx.doi.org/10.3389/fgene.2019.00762

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714493/
https://www.ncbi.nlm.nih.gov/pubmed/31507634
http://dx.doi.org/10.3389/fgene.2019.00762

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