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.

Sarasola, Esther

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. [electronic resource] - BMC medical genetics Jun 2011 - 86 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1471-2350

10.1186/1471-2350-12-86 doi


Base Sequence
Child
Female
Hereditary Sensory and Autonomic Neuropathies--genetics
Humans
Infant
Introns--genetics
Pain Perception
Phenotype
Protein Structure, Tertiary--genetics
RNA Splice Sites--genetics
RNA Splicing--genetics
Receptor, trkA--chemistry
Sequence Deletion--genetics