A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family-Reference-Cited by-同舟云学术

A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family

Published:2019-01 Issue:2 Volume:508 Page:487-493
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Maranghi Marianna,Truglio Gessica,Gallo Antonio,Grieco Elvira,Verrienti Antonella,Montali Anna,Gallo Pietro,Alesini Francesco,Arca Marcello,Lucarelli Marco^ORCID

Funder

Sapienza Università di Roma

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference42 articles.

1. Differential diagnosis of familial high density lipoprotein deficiency syndromes;von Eckardstein;Atherosclerosis,2006

2. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency;Brooks-Wilson;Nat. Genet.,1999

3. Familial analphalipoproteinemia: Tangier disease;Assman,2001

4. Diagnosis and treatment of high density lipoprotein deficiency;Schaefer;Prog. Cardiovasc. Dis.,2016

5. Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease;Sampietro;Circulation,2009

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