T

TARUGI P

Last name: TARUGI P

2000 (v1)

Publication

Metadata-only

A study of fatty liver disease and plasma lipoproteins in a kindred with Familial Hypobeta-lipoproteinemia due to a novel truncated form of apolipoprotein B (Apo B 54.5).

TARUGI P LONARDO A BALLARINI G

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Uploaded on: December 5, 2022
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