エラスチン動脈症患者における遺伝子診断と循環器表現型の重症度



Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients with Elastin Arteriopathy.

Min S(1), Kinnear C(1), D'Alessandro LCA(2), Bouwmeester J(1), Yao R(1), Chiasson D(3), Keeley F(4), Mital S(5).
Author information:
(1)Genetics & Genome Biology Program, Hospital for Sick Children, Toronto, ON, Canada.
(2)Pediatric Cardiology, Women and Children's Health, Trillium Health Partners, Mississauga & Department of Pediatrics, University of Toronto, Toronto, ON, Canada.
(3)Department of Pediatric Laboratory Medicine, Laboratory Medicine & Pathobiology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
(4)Program in Molecular Medicine, The Hospital for Sick Children & Department of Biochemistry, University of Toronto, Toronto, ON, Canada.
(5)Genetics and Genome Biology Program & Department of Pediatrics, Hospital for Sick Children & Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Circ Genom Precis Med. 2020 Sep 22. doi: 10.1161/CIRCGEN.120.002971. Online ahead of print.

背景: 手法: 結果: 結論: (2020年9月)



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