Article
Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.
Human genetics - 1 Jan 2000
Miura Y, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y
Abstract excerpt
The human TRKA gene encodes a high-affinity tyrosine kinase receptor for nerve growth factor. Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder reported from various countries and characterized by anhidrosis (inability to sweat), the absence of rea...
Topics
- Alleles
- DNA Mutational Analysis
- Exons
- Founder Effect
- Frameshift Mutation
- Haplotypes
- Hereditary Sensory and Autonomic Neuropathies
- Humans
- Microsatellite Repeats
- Mutation
- Mutation, Missense