Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil

Hypertriglyceridemia (HTG) is a common dyslipidemia associated with an increased risk of cardiovascular disease and pancreatitis. It is well stablished that the severe cases of disease often present with an underlying genetic cause. In this study, we determined the frequency and variation spectrum o...

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書誌詳細

出版年:	Molecular Genetics and Metabolism Reports
主要な著者:	Camila Mendes, Thereza Loureiro, Darine Villela, Marcelo Imbroinise Bittencourt, Joselito Sobreira, Diana Bermeo, Mireille Gomes, Dayse Alencar, Luciana Santos Serrao de Castro, Rodrigo Ambrosio Fock, Maria Luisa Tinoco, Henrique Galvão, Cristovam Scapulatempo-Neto, Katia Schiavetti, Andreza A. Senerchia, Maria Helane Costa Gurgel
フォーマット:	論文
言語:	英語
出版事項:	Elsevier 2024-09-01
主題:	Severe hypertriglyceridemia Triglycerides Dyslipidemia Genetic testing Germline variant analysis Diagnostic yield
オンライン･アクセス:	http://www.sciencedirect.com/science/article/pii/S2214426924000533