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...

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Udgivet i:BMC Med Genet
Main Authors: Mao, Bin, Chen, Siyu, Chen, Xin, Yu, Xiumei, Zhai, Xiaojia, Yang, Tao, Li, Lulu, Wang, Zheng, Zhao, Xiuli, Zhang, Xue
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2018
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6006597/
https://ncbi.nlm.nih.gov/pubmed/29914388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0615-8
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