Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Autosomal dominant hypercholesterolemia 3 is caused by mutations of the PCSK9 gene, a protein that regulates LDL receptor.
| 1. |
Varret M et al. (1999) A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. 
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| 2. |
Hunt SC et al. (2000) Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred.
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| 3. |
Abifadel M et al. (2003) Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
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| 4. |
Timms KM et al. (2004) A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree.
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| 5. |
Cohen J et al. (2005) Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.
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| 6. |
Haddad L et al. (1999) Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.
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| 7. |
OMIM.ORG article Omim 603776
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