Yoshimura, A <br/><br/>
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 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.13002  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Alleles<br/>Charcot-Marie-Tooth Disease--diagnosis<br/>Child<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Female<br/>Founder Effect<br/>Genetic Association Studies<br/>Genotype<br/>Haplotypes<br/>Humans<br/>Japan<br/>Male<br/>Middle Aged<br/>Mutation<br/>Myelin Proteins--genetics<br/>Nerve Tissue Proteins--genetics<br/>Pedigree<br/>Phenotype<br/>Reproducibility of Results<br/>Exome Sequencing<br/>Young Adult