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Autosomal dominant hypercholesterolemia 3

Autosomal dominant hypercholesterolemia 3 is caused by mutations of the PCSK9 gene, a protein that regulates LDL receptor.

Systematic

Hypercholesterolemia
Autosomal dominant hypercholesterolemia 1
Autosomal dominant hypercholesterolemia 2
Autosomal dominant hypercholesterolemia 3
PCSK9
Autosomal recessive hypercholesterolemia
Low density lipoprotein cholesterol level quantitative trait locus
Lp(a) hyperlipoproteinemia

References:

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 [^]
Update: May 9, 2019
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