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Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunc...

Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunc...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2161934861

Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia

About this item

Full title

Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia

Publisher

United States: Public Library of Science

Journal title

PloS one, 2018-12, Vol.13 (12), p.e0209410

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative condition which also has effects on the heart. In 96% of affected individuals FRDA is due to homozygosity of a GAA repeat expansion in intron 1 of the frataxin (FXN) gene. The number of GAA repeats have been shown to relate to disease severity in FRDA, this thought to be via an in...

Alternative Titles

Full title

Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_2161934861

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2161934861

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0209410

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