Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel nonsense mutation of ABCA8 in a patient with reduced HDL-c levels and atherosclerosis.

QJM : monthly journal of the Association of Physicians - 10 May 2022

Fan L-L, Liu L, Wang C-Y, Guo T, Luo H

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Atherosclerosis
Share to ATP-Binding Cassette Transporters
Share to Cholesterol, HDL
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Identifiers

PMID: 35060612
DOI: 10.1093/qjmed/hcac009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel nonsense mutation of ABCA8 in a patient with reduced HDL-c levels and atherosclerosis.PMID 35060612Read ↗

Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis.Semantic proximity Read ↗

Genetic disorders associated with ATP binding cassette cholesterol transporters.Semantic proximity Read ↗

Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy.Semantic proximity Read ↗

A Novel Variant (p.Leu1054Arg) in ABCB11 Presenting with Progressive Familial Intrahepatic Cholestasis (PFIC) with Congenital Hypothyroidism.Semantic proximity Read ↗

A Novel Mutation of ABCB4 in Progressive Familial Intrahepatic Cholestasis 3: Like Mother, Like Daughter.Semantic proximity Read ↗

R1615P: a novel mutation in ABCA1 associated with low levels of HDL and type II diabetes mellitus.Semantic proximity Read ↗

Novel variants of ABCC9 in Japanese children with Cantú syndrome.Semantic proximity Read ↗

Association of HDL deficiency with a novel mutation in the ABCA1 gene.Semantic proximity Read ↗

A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death.Semantic proximity Read ↗

The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.Semantic proximity Read ↗

Single heterozygote splice mutation in the ABCA1 gene is associated with diffuse atherosclerotic disease in a low high-density lipoprotein syndrome.Semantic proximity Read ↗

Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.