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

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

Publikováno v: Biochemical and Biophysical Research Communications
Biochemical and Biophysical Research Communications, Elsevier, 2019, 508 (2), pp.487-493. ⟨10.1016/j.bbrc.2018.11.064⟩

International audience; Tangier disease is a rare disorder of lipoprotein metabolism that presents with extremely low levels of HDL cholesterol and apoprotein A-I. It is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. Cli

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https://hal.sorbonne-universite.fr/hal-02136966/file/1-s2.0-S0006291X18324781-main.pdf