Localization of the mouse gene encoding tyrosine kinase receptor type 10 on distal Chromosome 1

1997 ◽  
Vol 8 (12) ◽  
pp. 941-942 ◽  
Author(s):  
Jennifer N. Murdoch ◽  
Jane Eddleston ◽  
Philip Stanier ◽  
Andrew J. Copp
2017 ◽  
Vol 45 (2) ◽  
pp. 549-555 ◽  
Author(s):  
Ting Wang ◽  
Haibo Li ◽  
Jingjing Xiang ◽  
Bin Wei ◽  
Qin Zhang ◽  
...  

Objective To explore the aetiology of congenital insensitivity to pain with anhidrosis (CIPA) in two Chinese siblings with typical CIPA symptoms including insensitivity to pain, inability to sweat, and self-mutilating behaviours. Methods Clinical examination and genetic testing were conducted of all available family members, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1) including intron–exon boundaries was used to identify mutations associated with CIPA. Results A novel nonsense mutation (c.7C > T, p. Arg3Ter) and a known splice-site mutation (c.851-33 T > A) were detected in NTRK1 and shown to be associated with CIPA. Conclusion Our findings expand the known mutation spectrum of NTRK1 and provide insights into the aetiology of CIPA.


Author(s):  
Jennifer H. Adams ◽  
Karen G. Wigg ◽  
Nicole King ◽  
Irina Burcescu ◽  
Ágnes Vetró ◽  
...  

2008 ◽  
Vol 7 (7) ◽  
pp. 778-785 ◽  
Author(s):  
P. Alonso ◽  
M. Gratacòs ◽  
J. M. Menchón ◽  
C. Segalàs ◽  
J. R. González ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document