Article
Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1.
BMC medical genetics - 18 Jun 2018
Mao Bin, Chen Siyu, Chen Xin, Yu Xiumei, Zhai Xiaojia, Yang Tao, Li Lulu, Wang Zheng, Zhao Xiuli, Zhang Xue
Abstract excerpt
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, the detection of variations in NF1 is more difficult than that for an ordinary gene. METHODS: In this study, we...
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