Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants. [electronic resource]
Producer: 20180430Description: 274-280 p. digitalISSN:- 1399-0004
- Adolescent
- Adult
- Alleles
- Charcot-Marie-Tooth Disease -- diagnosis
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Founder Effect
- Genetic Association Studies
- Genotype
- Haplotypes
- Humans
- Japan
- Male
- Middle Aged
- Mutation
- Myelin Proteins -- genetics
- Nerve Tissue Proteins -- genetics
- Pedigree
- Phenotype
- Reproducibility of Results
- Exome Sequencing
- Young Adult
No physical items for this record
Publication Type: Journal Article
There are no comments on this title.
Log in to your account to post a comment.