Next generation sequencing identified a novel multi exon deletion of the NF1 gene in a Chinese pedigree with neurofibromatosis type 1

Next generation sequencing identified a novel multi exon deletion of the NF1 gene in a Chinese pedigree with neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a genetic disease involving neurocutaneous abnormalities. Neurofibromatosis type 1 is an autosomal dominant disorder characterized by the neurofibromas and café-au-lait spots. Mutation in the NF 1 gene causes NF1. The NF 1 gene encodes neurofibromin. In this study,...

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Bibliographic Details
Main Authors: Yang J, An J-X, Liu X-L, Wang Z-Q, Xie G-M, Yang X-L, Xu S-J, Feng F, Ni Y
Format: Article
Language:English
Published: Sciendo 2018-12-01
Series:Balkan Journal of Medical Genetics
Subjects:
café-au-lai-spots
multi-exon deletion
novel mutation
neurofibromas
neurofibromatosis type 1 (nf1)
next generation sequencing (ngs)
Online Access:https://doi.org/10.2478/bjmg-2018-0019

Internet

https://doi.org/10.2478/bjmg-2018-0019

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