1 document found, page 1 of 1

Sort by Issue Date
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

Specification of ACMG/AMP variant classification guidelines for Familial Hyperc...

Kurtz, C. Lisa; Carrie, Alain; Chora, Joana R.; Iacocca, Michael; Leigh, Sarah; Freiberger, Tomas; Tichy, Lukas; Defesche, Joep; Hegele, Robert

Familial hypercholesterolemia (FH) is a common autosomal dominant disorder (~1:250 individuals affected) of lipid metabolism, associated with an increased risk of cardiovascular disease. Individuals with FH characteristically present with severely elevated blood cholesterol levels, which leads to atherosclerotic plaque formation and subsequently, myocardial infarction due to premature coronary artery disease. T...

Date: 2018   |   Origin: Repositório Científico do Instituto Nacional de Saúde
More info.
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

1 Results

Queried text

Refine Results

Author













Date


Document Type


Access rights


Resource


Subject