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LANGHEIM S

Last name: LANGHEIM S

2002 (v1)

Publication

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A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia.

PISCIOTTA, LIVIA DE STEFANO, FRANCESCO BERTOLINI, STEFANO

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
2004 (v1)

Publication

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Genetic polymorphisms affecting the phenotypic expression in familial hypercholesterolemia

BERTOLINI, STEFANO PISCIOTTA, LIVIA DI SCALA L

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

Metadata-only

Clinical Expression of Familial Hypercholesterolemia in clusters of mutations of LDL-receptor gene causing receptor-defective or receptor-negative phenotype

BERTOLINI, STEFANO PISCIOTTA, LIVIA CANTAFORA A

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Uploaded on: March 31, 2023