The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. [electronic resource]
- American journal of human genetics Aug 2012
- 320-9 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2012.07.014 doi
Base Sequence Chromosomes, Human, Pair 3--genetics DNA-Binding Proteins--genetics Exome--genetics Genetic Linkage Genetic Predisposition to Disease--genetics Golgi Apparatus--pathology Haplotypes--genetics Hereditary Sensory and Motor Neuropathy--genetics Humans Inclusion Bodies--pathology Japan Molecular Sequence Data Motor Neurons--pathology Pedigree Point Mutation--genetics Polymorphism, Single Nucleotide--genetics Proteins--genetics Sequence Analysis, DNA