Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease

Tangier disease (TD) is a rare autosomal recessive disorder caused by a variant in the ABCA1 gene, characterized by significantly reduced levels of plasma high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA-I). TD typically leads to accumulation of cholesterol in the peripheral...

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Detalles Bibliográficos
Autores principales: Barbosa-Gouveia, Sofía, Fernández-Crespo, Silvia, Lazaré-Iglesias, Héctor, González-Quintela, Arturo, Vázquez-Agra, Néstor, Hermida-Ameijeiras, Álvaro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094818/
https://www.ncbi.nlm.nih.gov/pubmed/37048678
http://dx.doi.org/10.3390/jcm12072596

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094818/
https://www.ncbi.nlm.nih.gov/pubmed/37048678
http://dx.doi.org/10.3390/jcm12072596

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