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Familial hypercholesterolemia
- ... gene cause a form of high cholesterol called familial hypercholesterolemia. More than 2,000 mutations have been identified ... of having a heart attack.Most people with familial hypercholesterolemia inherit one altered copy of the LDLR gene ...
- ... more than 50 PCSK9 gene mutations that cause familial hypercholesterolemia. Most of these mutations change single protein building ... PCSK9 protein. Researchers describe the mutations responsible for familial hypercholesterolemia as "gain-of-function" because they appear to ...
- ... in the APOB gene are known to cause familial hypercholesterolemia. This condition is characterized by very high levels ... of having a heart attack.Most people with familial hypercholesterolemia inherit one altered copy of the APOB gene ...
- ... have been shown to cause a form of familial hypercholesterolemia called autosomal recessive hypercholesterolemia. These mutations lead to ...
- ... transfer protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia. Crit Rev Clin Lab Sci. 2017 Jan;54( ...