Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection...
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta
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Author / Creator
Weerakkody, Ruwan , Ross, David , Parry, David A , Ziganshin, Bulat , Vandrovcova, Jana , Gampawar, Piyush , Abdullah, Abdulshakur , Biggs, Jennifer , Dumfarth, Julia , Ibrahim, Yousef , Bicknell, Colin , Field, Mark , Elefteriades, John , Cheshire, Nick , Aitman, Timothy J and Yale Aortic Institute Data and Repository Team
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
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Scope and Contents
Contents
Purpose
Thoracic aortic aneurysm/aortic dissection (TAAD) is a disorder with highly variable age of onset and phenotype. We sought to determine the prevalence of pathogenic variants in TAAD-associated genes in a mixed cohort of sporadic and familial TAAD patients and identify relevant genotype–phenotype relationships.
Methods
We used a tar...
Alternative Titles
Full title
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6004315
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6004315
Other Identifiers
ISSN
1098-3600,1530-0366
E-ISSN
1530-0366
DOI
10.1038/gim.2018.27
