## Communicated by Mark H. Paalman Low-density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterolemia (FH), one of the most common single gene disorders. The spectrum of LDLR mutations in Brazil is not known. The aim of this study was the characterization of LDLR mutations
Molecular basis of familial hypercholesterolemia in Brazil: Identification of nine novel LDLR gene mutations
- Book ID
- 118631175
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 167 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1567-5688
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Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), an autosomal dominant inherited disorder associated with an increased risk of premature atherosclerosis. The aim of this study was to characterize the LDLR mutations in a group of 476 apparently n
## Communicated by Mark H. Paalman Mutations underlying FH in Spain are largely unknown because only a few and limited surveys have been carried out on Spanish FH patients up to now. To gain information on this issue, we have analysed a group of 113 unrelated Spanish FH patients from an eastern ar
Autosomal dominant hypercholesterolemia (ADH), a major risk for coronary heart disease, is associated with mutations in the genes encoding the low-density lipoproteins receptor (LDLR), its ligand apolipoprotein B (APOB) or PCSK9 (Proprotein Convertase Subtilin Kexin 9). Familial hypercholesterolemia