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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Vydáno v:Hum Mutat
Hlavní autoři: Shaikh, Samiha S., Chen, Ya‐Chun, Halsall, Sally‐Anne, Nahorski, Michael S., Omoto, Kiyoyuki, Young, Gareth T., Phelan, Anne, Woods, Christopher Geoffrey
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2016
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Research Articles
On-line přístup: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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