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

Journal of Medical Genetics

Volumn 47, Issue 10, 2010, Pages 712-716

  Crimella, C ^a   Tonelli, A ^a   Airoldi, G ^a   Baschirotto, C ^a   D'Angelo, M G ^b   Bonato, S ^b   Losito, L ^a   Trabacca, A ^a   Bresolin, N ^a,c   Bassi, M T ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

^b Neuromuscular and Neurorehabilitation Unit   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN GDAP1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHARCOT MARIE TOOTH TYPE 2; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; FAMILY; GENE DELETION; GENETIC SCREENING; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MISSENSE MUTATION; NERVE FIBER; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE OF ONSET; AXONS; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROPHYSIOLOGY; GENE DELETION; GENES, DOMINANT; GLUTATHIONE TRANSFERASE; HUMANS; ITALY; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 77957794066     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.077909     Document Type: Article

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