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

BACKGROUND: 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 NTRK1 gene, which encodes the high affinity tyrosine kinase receptor I for Neuro...

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Detalles Bibliográficos
Autores principales: Sarasola, Esther, Rodríguez, Jose A, Garrote, Elisa, Arístegui, Javier, García-Barcina, Maria J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141629/
https://www.ncbi.nlm.nih.gov/pubmed/21708027
http://dx.doi.org/10.1186/1471-2350-12-86

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