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DI SCALA L

Last name: DI SCALA L

2006 (v1)

Publication

Metadata-only

Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison.

PISCIOTTA, LIVIA OLIVA CP PES GM

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Uploaded on: March 27, 2023
2004 (v1)

Publication

Metadata-only

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