C

CALANDRA S.

Last name: CALANDRA S.

2003 (v1)

Publication

Metadata-only

Molecular-genetics of the hypoalphalipoproteinemias in Italy

Bertolini S. Pisciotta L. Altilia S.

The molecular bases of hypoalphalipoproteinemia (HA), which is associated with premature coronary heart disease (pCAD) in most cases, were investigated in 80 Italian probands. ABCA1, Apo AI, LCAT, LPL and GBA were the candidate genes. The molecular defect was found in 64% of probands (4% ABCA1, 4% Apo AI, 11% LCAT, 44% LPL and 1% GBA...

Uploaded on: May 12, 2023
2019 (v1)

Publication

Metadata-only

In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia

Rabacchi C. Simone M. L. Pisciotta L.

Background: Familial hypobetalipoproteinemia type 1 (FHBL-1) is a codominant disorder characterized by greatly reduced plasma levels of total cholesterol, low-density lipoprotein cholesterol, and apolipoprotein B. Rare exonic pathogenic variants of APOB gene (nonsense variants, minute deletions/insertions and nonsynonymous variants) have been...

Uploaded on: April 14, 2023
2010 (v1)

Publication

Metadata-only

Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease.

Bocchi L PISCIOTTA, LIVIA Fasano T

No description

Uploaded on: April 14, 2023