Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia

Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is one of the most common autosomal, dominantly inherited diseases affecting cholesterol metabolism, which, in the absence of treatment, leads to the development of cardiovascular complications. The disease is still underdiagnosed, even though an early diagnosis wo...

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Bibliographic Details
Main Authors: László Madar, Lilla Juhász, Zsuzsanna Szűcs, Lóránt Kerkovits, Mariann Harangi, István Balogh
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Genes
Subjects:
familial hypercholesterolemia
FH
Hungary
<i>LDLR</i>
<i>APOB</i>
next-generation sequencing
Online Access:https://www.mdpi.com/2073-4425/13/1/153

Internet

https://www.mdpi.com/2073-4425/13/1/153

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