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...
Main Authors: | Kinshuk Jain, Sarah C. McCarley, Ghazel Mukhtar, Anna Ferlin, Andrew Fleming, Deborah J. Morris-Rosendahl, Claire L. Shovlin |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-12-01
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Series: | Journal of Clinical Medicine |
Subjects: | |
Online Access: | https://www.mdpi.com/2077-0383/13/1/250 |
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