A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis.

Autor: Sarasola, Esther1, Rodríguez, Jose A.2, Garrote, Elisa3, Arístegui, Javier3, García-Barcina, Maria J.1 MAJESUS.GARCIABARCINA@osakidetza.net
Zdroj: BMC Medical Genetics. 2011, Vol. 12 Issue 1, p86-92. 7p.
Databáze: Academic Search Ultimate