The M581V mutation, associated with a mild form of congenital insensitivity to pain with anhidrosis, causes partial inactivation of the NTRK1 receptor
J Invest Dermatol
.
2002 Oct;119(4):978-9.
doi: 10.1046/j.1523-1747.2002.00140.x.
Authors
Claudia Miranda
,
Silvia Selleri
,
Marco A Pierotti
,
Angela Greco
PMID:
12406349
DOI:
10.1046/j.1523-1747.2002.00140.x
No abstract available
Publication types
Letter
Research Support, Non-U.S. Gov't
MeSH terms
3T3 Cells
Animals
Humans
Mice
Mutation*
Receptor, trkA / genetics*
Refsum Disease / genetics*
Substances
Receptor, trkA
Grants and funding
E.1159/TI_/Telethon/Italy