A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1.
Sign Up to like & getrecommendations! Published in 2018 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2018.09.22
Abstract: We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1 (NF1). Three members of this family were NF1 patients presenting with different clinical phenotypes and the others were… read more here.
Keywords: mutation; neurofibromatosis type; chinese pedigree; novel nf1 ... See more keywords
Two Novel NF1 Pathogenic Variants Causing the Creation of a New Splice Site in Patients With Neurofibromatosis Type I
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00762
Abstract: 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… read more here.
Keywords: two novel; splice site; neurofibromatosis type; novel nf1 ... See more keywords