Ontology highlight
ABSTRACT:
SUBMITTER: Gomaraschi M
PROVIDER: S-EPMC3096778 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Gomaraschi Monica M Obici Laura L Simonelli Sara S Gregorini Gina G Negrinelli Alessandro A Merlini Giampaolo G Franceschini Guido G Calabresi Laura L
Clinica chimica acta; international journal of clinical chemistry 20110331 13-14
<h4>Background</h4>Hereditary amyloidosis due to mutations of apolipoprotein A-I (apoA-I) is a rare disease characterized by the deposition of amyloid fibrils constituted by the N-terminal fragment of apoA-I in several organs. L75P is a variant of apoA-I associated with systemic amyloidosis predominantly involving the liver, kidneys, and testis, identified in a large number of unrelated subjects. Objective of the present paper was to evaluate the impact of the L75P apoA-I variant on HDL subpopul ...[more]