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A novel NF1 frame-shift mutation c.703_704delTA in a Chinese pedigree with neurofibromatosis type 1

We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1 (NF1). Three members of this family were NF1 patients presenting with different clinical phenotypes and the others were asymptomatic. Exons of NF1 were amplified by polymerase chain reaction, se...

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Bibliografiske detaljer
Udgivet i:Int J Ophthalmol
Main Authors: Chen, Jun, Guo, Bo, Ren, Min, Lin, Hong, Zhang, Xin, Chen, Si-Yi, Yu, Xiao-Tian, Xu, Zhu-Ping
Format: Artigo
Sprog:Inglês
Udgivet: International Journal of Ophthalmology Press 2018
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6133898/
https://ncbi.nlm.nih.gov/pubmed/30225235
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2018.09.22
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