Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulti...
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations
About this item
Full title
Author / Creator
De Sandre-Giovannoli, A , Chaouch, M , Boccaccio, I , Bernard, R , Delague, V , Grid, D , Vallat, J M , Lévy, N and Mégarbané, A
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
Whether GDAP1 is physiologically involved in signal transduction, cell-cell recognition, neurotransmitter release modulation, or cellular detoxification, the mutated proteins (that of LIB284-IV.2 is predicted to be truncated at aa 223, which is localised in the GST-xenobiotic recognising domain, and those of ALG384-II.1 and ALG384-II.2 are predicte...
Alternative Titles
Full title
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1735511
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1735511
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.40.7.e87
