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Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta

Autor: Piyush Gampawar, Jennifer Biggs, Ruwan A. Weerakkody, David A. Parry, Yousef Ibrahim, Bulat A. Ziganshin, Nick Cheshire, Colin Bicknell, Julia Dumfarth, Repository Team, Mark Field, Abdulshakur Abdullah, Timothy J. Aitman, Jana Vandrovcova, John A. Elefteriades, David Ross

Publikováno v: Weerakkody, R, Ross, D, Parry, D A, Ziganshin, B, Vandrovcova, J, Gampawar, P, Abdullah, A, Biggs, J, Dumfarth, J, Ibrahim, Y, Bicknell, C, Field, M, Elefteriades, J, Cheshire, N & Aitman, T J 2018, ' Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta ', Genetics in Medicine . https://doi.org/10.1038/gim.2018.27
Genetics in medicine : official journal of the American College of Medical Genetics

PurposeThoracic 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 T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d650383954d884a1184970aaef3867cd
https://hdl.handle.net/20.500.11820/666d97df-cd0e-4de6-86e0-a696242833b9