Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1

BACKGROUND: Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by a heterozygous germline mutation in the tumor suppressor gene NF1. Because of the existence of highly homologous pseudogenes, the large size of the gene, and the heterogeneity of mutation types and positions...

Descripción completa

Detalles Bibliográficos
Autores principales: Mao, Bin, Chen, Siyu, Chen, Xin, Yu, Xiumei, Zhai, Xiaojia, Yang, Tao, Li, Lulu, Wang, Zheng, Zhao, Xiuli, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006597/
https://www.ncbi.nlm.nih.gov/pubmed/29914388
http://dx.doi.org/10.1186/s12881-018-0615-8

Ejemplares similares

Ejemplares similares