Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
Yoshimura, A
Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants. [electronic resource] - Clinical genetics Sep 2017 - 274-280 p. digital
Publication Type: Journal Article
1399-0004
10.1111/cge.13002 doi
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
Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants. [electronic resource] - Clinical genetics Sep 2017 - 274-280 p. digital
Publication Type: Journal Article
1399-0004
10.1111/cge.13002 doi
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