TY  - GEN
AU  - Yoshimura,A
AU  - Yuan,J-H
AU  - Hashiguchi,A
AU  - Hiramatsu,Y
AU  - Ando,M
AU  - Higuchi,Y
AU  - Nakamura,T
AU  - Okamoto,Y
AU  - Matsumura,K
AU  - Hamano,T
AU  - Sawaura,N
AU  - Shimatani,Y
AU  - Kumada,S
AU  - Okumura,Y
AU  - Miyahara,J
AU  - Yamaguchi,Y
AU  - Kitamura,S
AU  - Haginoya,K
AU  - Mitsui,J
AU  - Ishiura,H
AU  - Tsuji,S
AU  - Takashima,H
TI  - Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants
SN  - 1399-0004
PY  - 2018///0430
KW  - Adolescent
KW  - Adult
KW  - Alleles
KW  - Charcot-Marie-Tooth Disease
KW  - diagnosis
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Female
KW  - Founder Effect
KW  - Genetic Association Studies
KW  - Genotype
KW  - Haplotypes
KW  - Humans
KW  - Japan
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Myelin Proteins
KW  - genetics
KW  - Nerve Tissue Proteins
KW  - Pedigree
KW  - Phenotype
KW  - Reproducibility of Results
KW  - Exome Sequencing
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1111/cge.13002
ER  -