The HINT1 gene provides instructions for making the . Mutations in this gene are the primary cause of a rare neurological condition known as Neuromyotonia and Axonal Neuropathy (NMAN) . 1. Common & Novel Variants
Expanding the HINT1 Genotype and Phenotype Spectrum (HAL Archive) 🧬 Guide to HINT1 Mutations Download novel mutation inВ HINT1 gene pdf
p.Glu100Gly (c.299A>G): Found in Lithuanian and American families. The HINT1 gene provides instructions for making the
p.Ile63Asn (c.188T>A): Recently identified in African American patients. Download novel mutation inВ HINT1 gene pdf
Novel Homozygous HINT1 Mutation Case Report (Frontiers in Neurology)
The most common mutation is p.Arg37Pro (c.110G>C), frequently found in Slavic and European populations. Novel Mutation Examples: