Multiple splice defects in <it>ABCA1 </it>cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease
<p>Abstract</p> <p>Background</p> <p>Mutations at splice junctions causing exon skipping are uncommon compared to exonic mutations, and two intronic mutations causing an aberrant phenotype have rarely been reported. Despite the high number of functional <it>ABCA1...
Main Authors: | Miller Michael, Gardner David F, Mantaring Myrna M, Rhyne Jeffrey |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2009-01-01
|
Series: | BMC Medical Genetics |
Online Access: | http://www.biomedcentral.com/1471-2350/10/1 |
Similar Items
-
QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease
by: Melita Kaltak, et al.
Published: (2024-01-01) -
Hepatocyte ABCA1 deficiency is associated with reduced HDL sphingolipids
by: Alaa Othman, et al.
Published: (2023-08-01) -
Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in <i>ABCA4</i>
by: Tomasz Z. Tomkiewicz, et al.
Published: (2021-04-01) -
Correction of the Splicing Defect Caused by a Recurrent Variant in <i>ABCA4</i> (c.769-784C>T) That Underlies Stargardt Disease
by: Tomasz Z. Tomkiewicz, et al.
Published: (2022-12-01) -
Distinct Fatty Acid Compositions of HDL Phospholipids Are Characteristic of Metabolic Syndrome and Premature Coronary Heart Disease—Family Study
by: Timo Paavola, et al.
Published: (2021-05-01)