A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)

Hereditary sensory and autonomic neuropathy type IV (HSAN IV) is an autosomal recessive disorder characterized by a complete lack of pain perception and anhidrosis. Here, we studied a cohort of seven patients with HSAN IV and describe a comprehensive functional analysis of seven novel NTRK1 missense...

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Detalles Bibliográficos
Autores principales: Shaikh, Samiha S., Chen, Ya‐Chun, Halsall, Sally‐Anne, Nahorski, Michael S., Omoto, Kiyoyuki, Young, Gareth T., Phelan, Anne, Woods, Christopher Geoffrey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5299464/
https://www.ncbi.nlm.nih.gov/pubmed/27676246
http://dx.doi.org/10.1002/humu.23123

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