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

ABSTRACT 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...

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Veröffentlicht in:	Human mutation 2017-01, Vol.38 (1), p.55-63
Hauptverfasser:	Shaikh, Samiha S., Chen, Ya‐Chun, Halsall, Sally‐Anne, Nahorski, Michael S., Omoto, Kiyoyuki, Young, Gareth T., Phelan, Anne, Woods, Christopher Geoffrey
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Cell Line CIPA Computational Biology - methods DNA Mutational Analysis Gene Order Genetic Association Studies Genetic Loci Genetic Predisposition to Disease Genotype Glycosylation Hereditary Sensory and Autonomic Neuropathies - diagnosis Hereditary Sensory and Autonomic Neuropathies - genetics Hereditary Sensory and Autonomic Neuropathies - metabolism Humans Kinases Molecular Imaging Mutation Mutation, Missense Neurites - metabolism neuropathy NGF pain Phospholipase C gamma - metabolism Phosphorylation Protein Binding Protein Interaction Domains and Motifs Receptor, trkA - chemistry Receptor, trkA - genetics Receptor, trkA - metabolism Recombinant Fusion Proteins Sequence Analysis, DNA Signal Transduction TRKA
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