Sarasola, Esther <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/1471-2350-12-86  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Child<br/>Female<br/>Hereditary Sensory and Autonomic Neuropathies--genetics<br/>Humans<br/>Infant<br/>Introns--genetics<br/>Pain Perception<br/>Phenotype<br/>Protein Structure, Tertiary--genetics<br/>RNA Splice Sites--genetics<br/>RNA Splicing--genetics<br/>Receptor, trkA--chemistry<br/>Sequence Deletion--genetics