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

• Главные авторы: Arístegui Javier (Автор), Garrote Elisa (Автор), Rodríguez Jose A (Автор), Sarasola Esther (Автор), García-Barcina Maria J (Автор)
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• Опубликовано: BMC, 2011-06-01T00:00:00Z.
• Предметы: article
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<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...