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

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

<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...

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Bibliographic Details
Main Authors: Arístegui Javier, Garrote Elisa, Rodríguez Jose A, Sarasola Esther, García-Barcina Maria J
Format: Article
Language:English
Published: BMC 2011-06-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/12/86

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