Ishiura, Hiroyuki

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