• Users Online: 166
  • Print this page
  • Email this page
BRIEF REPORT
Year : 2020  |  Volume : 38  |  Issue : 4  |  Page : 217-220

Clinical manifestations and neurofibromatosis type 1 gene mutations of 25 patients with neurofibromatosis type 1 from 10 Chinese pedigrees


Department of Dermatology, Xuanwu Hospital, Capital Medical University, Changchun, Xicheng, Beijing, China

Correspondence Address:
Prof. Wei Zhu
Department of Dermatology, Xuanwu Hospital, Capital Medical University, No.45, Changchun St, Xicheng District, Beijing 100053
China
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ds.ds_49_19

Rights and Permissions

This study enrolled 25 patients with neurofibromatosis type 1 (NF1) from 10 Chinese pedigrees. Sanger sequencing analysis and multiplex ligation-dependent probe amplification analysis were used to detect mutations and large fragment losses of the NF1 gene. This study identified 10 NF1 mutations, which comprised six novel and four recurrent mutations. Majority of the mutations can lead to termination codon production, which results in the synthesis of the truncated gene product neurofibromin.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed438    
    Printed12    
    Emailed0    
    PDF Downloaded66    
    Comments [Add]    

Recommend this journal