Association of a Novel Homozygous Variant in IABCA1/I Gene with Tangier Disease
Association of a Novel Homozygous Variant in IABCA1/I Gene with Tangier Disease
About this item
Full title
Association of a Novel Homozygous Variant in IABCA1/I Gene with Tangier Disease
Author / Creator
Publisher
MDPI AG
Journal title
Journal of clinical medicine, 2023-03, Vol.12 (7)
Language
English
Formats
Publication information
Publisher
MDPI AG
Subjects
More information
Scope and Contents
Contents
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 tissues and early coronary disease but with highl...
Alternative Titles
Full title
Association of a Novel Homozygous Variant in IABCA1/I Gene with Tangier Disease
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_gale_infotracmisc_A750301500
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A750301500
Other Identifiers
ISSN
2077-0383
E-ISSN
2077-0383
DOI
10.3390/jcm12072596
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