TY  - GEN
AU  - Sarasola,Esther
AU  - Rodríguez,Jose A
AU  - Garrote,Elisa
AU  - Arístegui,Javier
AU  - García-Barcina,Maria J
TI  - 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
SN  - 1471-2350
PY  - 2011///0915
KW  - Base Sequence
KW  - Child
KW  - Female
KW  - Hereditary Sensory and Autonomic Neuropathies
KW  - genetics
KW  - Humans
KW  - Infant
KW  - Introns
KW  - Pain Perception
KW  - Phenotype
KW  - Protein Structure, Tertiary
KW  - RNA Splice Sites
KW  - RNA Splicing
KW  - Receptor, trkA
KW  - chemistry
KW  - Sequence Deletion
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1186/1471-2350-12-86
ER  -