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

• Main Authors: Arístegui Javier (Author), Garrote Elisa (Author), Rodríguez Jose A (Author), Sarasola Esther (Author), García-Barcina Maria J (Author)
• Format: Book
• Published: BMC, 2011-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the <it>NTRK1 </it&g...