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Results 1 - 5 of 5 for Familial hypercholesterolemia 1
  1. LDLR gene 
    ... Kastelein JJ. Clinical, diagnostic, and therapeutic aspects of familial hypercholesterolemia. Semin Vasc Med. 2004 Feb;4(1):31-41. doi: 10.1055/s-2004-822984. ...
    https://medlineplus.gov/genetics/gene/ldlr - Genetics
  2. APOB gene 
    ... Kastelein JJ. Clinical, diagnostic, and therapeutic aspects of familial hypercholesterolemia. Semin Vasc Med. 2004 Feb;4(1):31-41. doi: 10.1055/s-2004-822984. ...
    https://medlineplus.gov/genetics/gene/apob - Genetics
  3. MTTP gene 
    ... transfer protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia. Crit Rev Clin Lab Sci. 2017 Jan;54(1):26-48. doi: 10.1080/10408363.2016.1221883. ...
    https://medlineplus.gov/genetics/gene/mttp - Genetics
  4. PCSK9 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 ...
    https://medlineplus.gov/genetics/gene/pcsk9 - Genetics
  5. LDLRAP1 gene 
    ... have been shown to cause a form of familial hypercholesterolemia called autosomal recessive hypercholesterolemia. These mutations lead to ... LDLRAP1 PubMed LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1 NCBI Gene ClinVar Garcia CK, Wilund K, ...
    https://medlineplus.gov/genetics/gene/ldlrap1 - Genetics