Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing a...
Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Friedreich ataxia (FRDA) is the most common hereditary ataxia. It is an autosomal recessive disorder caused by mutations of the
FXN
gene, mainly the biallelic expansion of the (GAA)n repeats in its first intron. Heterozygous expansion/point mutations or deletions are rare; no patients with two point mutations or a point mutation/deletion have...
Alternative Titles
Full title
Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_gale_infotracmisc_A710732173
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A710732173
Other Identifiers
ISSN
1234-1983
E-ISSN
2190-3883
DOI
10.1007/s13353-015-0331-4
