A novel variant in the ABCA1 gene for Tangier Disease with diffuse histiocytosis of bone marrow

Authors: Ramalho, Ana Rita ^{a, ⁎}, Moreira, Sónia ^a, Ramos, Lina C. ^b, de Moura, José Pereira ^a

Source: In Journal of Clinical Lipidology December 2024

Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency

Authors: Tommaso Fasano, Letizia Bocchi, Livia Pisciotta, Stefano Bertolini, Sebastiano Calandra

Source: Journal of Lipid Research, Vol 46, Iss 4, Pp 817-822 (2005)

Subject Terms: high density lipoprotein, ATP binding cassette transporter A1, heteroduplexes, sequence variants, primary hypoalphalipoproteinemia, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520340177; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/3cda3cae15194ee4b3fa77a68d0d15ef