Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder, characterized by loss of algesthesis and inability to sweat. CIPA is known to be caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1). However, the details of NTRK1 mutatio...

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Detalles Bibliográficos
Autores principales: Geng, Xingzhu, Liu, Yanshan, Ren, XiuZhi, Guan, Yun, Wang, Yanzhou, Mao, Bin, Zhao, Xiuli, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6009080/
https://www.ncbi.nlm.nih.gov/pubmed/29770739
http://dx.doi.org/10.1177/1744806918781140

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