F

FRESA R

Last name: FRESA R

2006 (v1)

Publication

Metadata-only

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

PISCIOTTA, LIVIA OLIVA CP PES GM

No description

Uploaded on: March 27, 2023
2006 (v1)

Publication

Metadata-only

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

PISCIOTTA, LIVIA OLIVA CP CEFALU AB

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