Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction

Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction

Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait, due to a single heterozygous loss-of-function variant, usually in <i>ACVRL1</i> (encoding activin receptor-like kinase 1 [ALK1]), <i>ENG</i> (encoding endoglin [CD10...

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Bibliographic Details
Main Authors: Kinshuk Jain, Sarah C. McCarley, Ghazel Mukhtar, Anna Ferlin, Andrew Fleming, Deborah J. Morris-Rosendahl, Claire L. Shovlin
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Journal of Clinical Medicine
Subjects:
atherosclerosis
dominant negative activity
heart attack
low-density lipoprotein (LDL) transcytosis
missense variant
Online Access:https://www.mdpi.com/2077-0383/13/1/250

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https://www.mdpi.com/2077-0383/13/1/250

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