Ontology highlight
ABSTRACT:
SUBMITTER: Shaikh SS
PROVIDER: S-EPMC5299464 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Shaikh Samiha S SS Chen Ya-Chun YC Halsall Sally-Anne SA Nahorski Michael S MS Omoto Kiyoyuki K Young Gareth T GT Phelan Anne A Woods Christopher Geoffrey CG
Human mutation 20161126 1
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 p.G517E, p.G522E, p.L657P, p.I699T, p.C752S, p.C763S, and p.R771C, all of which wer ...[more]