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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Bibliografiske detaljer
Udgivet i:Hum Mutat
Main Authors: Shaikh, Samiha S., Chen, Ya‐Chun, Halsall, Sally‐Anne, Nahorski, Michael S., Omoto, Kiyoyuki, Young, Gareth T., Phelan, Anne, Woods, Christopher Geoffrey
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2016
Fag:
Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5299464/
https://ncbi.nlm.nih.gov/pubmed/27676246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23123
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