TY  - GEN
AU  - Crimella,C
AU  - Tonelli,A
AU  - Airoldi,G
AU  - Baschirotto,C
AU  - D'Angelo,M G
AU  - Bonato,S
AU  - Losito,L
AU  - Trabacca,A
AU  - Bresolin,N
AU  - Bassi,M T
TI  - The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K
SN  - 1468-6244
PY  - 2011///0128
KW  - Adolescent
KW  - Adult
KW  - Age of Onset
KW  - Axons
KW  - metabolism
KW  - Charcot-Marie-Tooth Disease
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Electrophysiology
KW  - Gene Deletion
KW  - Genes, Dominant
KW  - Glutathione Transferase
KW  - Humans
KW  - Italy
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Mutation, Missense
KW  - Nerve Tissue Proteins
KW  - chemistry
KW  - Pedigree
KW  - Phenotype
KW  - Sequence Analysis, DNA
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2010.077909
ER  -