Article
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
Human mutation - 1 Jan 2017
Shaikh Samiha S, Chen Ya-Chun, Halsall Sally-Anne, Nahorski Michael S, Omoto Kiyoyuki, Young Gareth T, Phelan Anne, Woods Christopher Geoffrey
Abstract excerpt
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 mutations, c.1550G >A, c.1565G >A, c.1970T >C, c.2096T >C, c.2254T >A, c.2288G >C, and c.2311C >T, corresponding to...
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