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

Bin MaoSiyu ChenXin ChenXiumei YuXiaojia ZhaiTao YangLulu LiZheng WangXiuli ZhaoXue Zhang

Published in: BMC medical genetics (2018)

In conclusion, the novel mutations identified broaden the spectrum of NF1 mutations in Chinese; however, obvious correlations between genotype and phenotype were not observed in this study.

Keyphrases

signaling pathway
lps induced
oxidative stress
pi k akt
nuclear factor
immune response