The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

Crimella, C

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. [electronic resource] - Journal of medical genetics Oct 2010 - 712-6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmg.2010.077909 doi


Adolescent
Adult
Age of Onset
Axons--metabolism
Charcot-Marie-Tooth Disease--genetics
Child
Child, Preschool
DNA Mutational Analysis
Electrophysiology
Gene Deletion
Genes, Dominant
Glutathione Transferase--genetics
Humans
Italy
Molecular Sequence Data
Mutation
Mutation, Missense
Nerve Tissue Proteins--chemistry
Pedigree
Phenotype
Sequence Analysis, DNA
Young Adult