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Results 1 - 6 of 6 for "Hypercholesterolemia," "familial," 4
  1. Familial hypercholesterolemia 
    ... Hypercholesterolemia, autosomal dominant, type B Genetic Testing Registry: Hypercholesterolemia, familial, 4 Homozygous familial hypercholesterolemia National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../condition/familial-hypercholesterolemia - Genetics
  2. 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- ...
    https://medlineplus.gov/genetics/gene/ldlr - Genetics
  3. 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- ...
    https://medlineplus.gov/genetics/gene/apob - Genetics
  4. LDLRAP1 gene 
    ... have been shown to cause a form of familial hypercholesterolemia called autosomal recessive hypercholesterolemia. These mutations lead to ... 01.ATV.0000094410.66558.9A. Epub 2003 Sep 4. Citation on PubMed Soutar AK, Naoumova RP. Autosomal ...
    https://medlineplus.gov/genetics/gene/ldlrap1 - Genetics
  5. MTTP gene 
    ... transfer protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia. Crit Rev Clin Lab Sci. 2017 Jan;54( ...
    https://medlineplus.gov/genetics/gene/mttp - Genetics
  6. Congenital nephrotic syndrome 
    ... thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics. 2007 Apr;119(4):e907-19. doi: 10.1542/peds.2006-2164. ...
    https://medlineplus.gov/.../condition/congenital-nephrotic-syndrome - Genetics