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Genetic Causes of Familial Hypercholesterolemia

2019-09-27 06:30:39 | BioPortfolio

Summary

Familial hypercholesterolemia (FH) is a common disease. The genetic background to FH is not yet fully understood. In the present prospective cohort study we aim to study the association between different clinical characteristics, gene mutations and prognosis.

Description

In this prospective observational cohort study of patients with high clinical suspicion of familial hypercholesterolemia (FH) we aim to study the association between different clinical characteristics, gene mutations and prognosis.

The included patients will undergo physical examination and extended blood sampling. DNA will be extracted and used for both whole genome sequencing and investigation of both known- , unknown- and suspected mutations associated with FH.

The patients will be followed in for 15 years in the Swedish patients registry and the Swedish cause of death registry.

Study Design

Conditions

Familial Hypercholesterolemia

Intervention

No intervention

Location

Örebro University hospital
Örebro
Sweden
701 85

Status

Recruiting

Source

Region Örebro County

Results (where available)

View Results

Links

Published on BioPortfolio: 2019-09-27T06:30:39-0400

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