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First case of late onset cardiac phenotype Fabry disease due to an AluYb8 insertion in exon 7 of the GLA gene
- Source :
- European Heart Journal - Cardiovascular Imaging. 20:1182-1182
- Publication Year :
- 2019
- Publisher :
- Oxford University Press (OUP), 2019.
- Subjects :
- Male
Contrast Media
Late onset
Exon
Alu Elements
Gla gene
medicine
Humans
Radiology, Nuclear Medicine and imaging
Genetic Testing
Gene
Aged
business.industry
Exons
General Medicine
medicine.disease
Phenotype
Fabry disease
Pedigree
Mutagenesis, Insertional
alpha-Galactosidase
Cancer research
Fabry Disease
Cardiology and Cardiovascular Medicine
Cardiac phenotype
business
Subjects
Details
- ISSN :
- 20472412 and 20472404
- Volume :
- 20
- Database :
- OpenAIRE
- Journal :
- European Heart Journal - Cardiovascular Imaging
- Accession number :
- edsair.doi.dedup.....c36dae157f88c8f3e27fa3661ee14c8a
- Full Text :
- https://doi.org/10.1093/ehjci/jez083