Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1
Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1
About this item
Full title
Author / Creator
Hamida, C.B. , Cavalier, L. , Belal, S. , Sanhaji, H. , Nadal, N. , Barhoumi, C. , M'Rissa, N. , Marzouki, N. , Mandel, J.-L. , Hamida, M.B. , Koenig, M. and Hentati, F.
Publisher
United States: Springer Nature B.V
Journal title
Language
English
Formats
Publication information
Publisher
United States: Springer Nature B.V
Subjects
More information
Scope and Contents
Contents
Giant axonal neuropathy (GAN) is a rare autosomal recessive disorder described as a symmetrical distal neuropathy, with peripheral axons dilated by accumulation of 10 nm neurofilaments (NF) and a severe course of the disease. The observation of kinky or curly hairs is not a constant finding. The GAN1 locus was localized by homozygosity mapping to c...
Alternative Titles
Full title
Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_899151177
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_899151177
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s100480050019
