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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Setrajcic Dragos, Vita, Blatnik, Ana, Klancar, Gasper, Stegel, Vida, Krajc, Mateja, Blatnik, Olga, Novakovic, Srdjan
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Genetics
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados