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

Autor: Maranghi, Marianna, Truglio, Gessica, Gallo, Antonio, Grieco, Elvira, Verrienti, Antonella, Montali, Anna, Gallo, Pietro, Alesini, Francesco, Arca, Marcello, Lucarelli, Marco
Zdroj: In Biochemical and Biophysical Research Communications 8 January 2019 508(2):487-493
Databáze: ScienceDirect