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Results 1 - 10 of 12 for Hypercholesterolaemia
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  1. Familial hypercholesterolemia 
    Familial hypercholesterolemia is an inherited condition characterized by very high levels of cholesterol in the blood. Cholesterol is a ... aid in fat digestion. In people with familial hypercholesterolemia, the body is unable to get rid of ...
    https://medlineplus.gov/.../condition/familial-hypercholesterolemia - Genetics
  2. LDLR gene 
    ... cause a form of high cholesterol called familial hypercholesterolemia. More than 2,000 mutations have been identified ... having a heart attack.Most people with familial hypercholesterolemia inherit one altered copy of the LDLR gene ...
    https://medlineplus.gov/genetics/gene/ldlr - Genetics
  3. LDLRAP1 gene 
    ... been shown to cause a form of familial hypercholesterolemia called autosomal recessive hypercholesterolemia. These mutations lead to the production of an ...
    https://medlineplus.gov/genetics/gene/ldlrap1 - Genetics
  4. APOB gene 
    ... the APOB gene are known to cause familial hypercholesterolemia. This condition is characterized by very high levels ... having a heart attack.Most people with familial hypercholesterolemia inherit one altered copy of the APOB gene ...
    https://medlineplus.gov/genetics/gene/apob - Genetics
  5. PCSK9 gene 
    ... than 50 PCSK9 gene mutations that cause familial hypercholesterolemia. Most of these mutations change single protein building ... protein. Researchers describe the mutations responsible for familial hypercholesterolemia as "gain-of-function" because they appear to ...
    https://medlineplus.gov/genetics/gene/pcsk9 - Genetics
  6. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... degeneration Alpha-1 antitrypsin deficiency Celiac disease Familial hypercholesterolemia Glucose-6-phosphate dehydrogenase deficiency , also called G6PD ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  7. MTTP gene 
    ... protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia. Crit Rev Clin Lab Sci. 2017 Jan;54( ...
    https://medlineplus.gov/genetics/gene/mttp - Genetics
  8. Bardet-Biedl syndrome 
    ... blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia).Other major signs and symptoms of Bardet-Biedl ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  9. ABCG8 gene 
    ... PJ. Polymorphisms in ABCG5/G8 transporters linked to hypercholesterolemia and gallstone disease. Nutr Rev. 2008 Jun;66( ...
    https://medlineplus.gov/genetics/gene/abcg8 - Genetics
  10. Primary coenzyme Q10 deficiency 
    ... nephrotic syndrome include increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in the abdominal ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
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