Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.

Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.
Clin Genet. 2017 Sep 21;:
Authors: Amin S, Forrester N, Norman A, Lux A, Vijayakumar K
Abstract
Schematic presentation of NTRK1 protein structure. Variants identified in this study are shown in red and previously reported variants associated with CIPA are shown in black (LRM, leucine rich motif; Ig, immunoglobulin-like domain; TM, transmembrane domain; TK, tyrosine kinase domain).
PMID: 28940190 [PubMed - as supplied by publisher]

Source: Clinical Genetics - September 21, 2017 Category: Genetics & Stem Cells Authors: Amin S, Forrester N, Norman A, Lux A, Vijayakumar K Tags: Clin Genet Source Type: research