2003 (v1)
Publication
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Uploaded on: April 14, 2023
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2002 (v1)Publication
Familial hypercholesterolemia (FH) is a common genetic disorder caused by mutations of the LDL-receptor gene and transmitted as a codominant trait. However, there are some forms of hypercholesterolemia which have a recessive type of transmission. We have identified a subject with the clinical phenotype of heterozygous FH whose parents had...
Uploaded on: April 14, 2023 -
2006 (v1)Publication
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Uploaded on: March 27, 2023 -
2001 (v1)Publication
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Uploaded on: April 14, 2023 -
2006 (v1)Publication
Patients homozygous or compound heterozygous for LDLR mutations or double heterozygous for LDLR and apo B R3500Q mutation have higher LDL-C levels, more extensive xanthomatosis and more severe premature coronary disease (pCAD) than simple heterozygotes for mutations in either these genes or for missense mutations in PCSK9 gene. It is not known...
Uploaded on: April 14, 2023 -
2004 (v1)Publication
The clinical expression of heterozygous familial hypercholesterolemia (FH) is highly variable even in patients carrying the same LDL receptor (LDL-R) gene mutation. This variability might be due to environmental factors as well as to modifying genes affecting lipoprotein metabolism. We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B...
Uploaded on: March 27, 2023 -
2000 (v1)Publication
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Uploaded on: March 31, 2023