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

Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.

1 Jan 1994

Abstract excerpt

We report a Canadian kindred with a novel mutation in the apolipoprotein (apo) A-I gene causing analphalipoproteinemia. The 34-yr-old proband, product of a consanguineous marriage, had bilateral retinopathy, bilateral cataracts, spinocerebellar ataxia, and tendon xanthomata. High density lipoprotein cholesterol (HDL-C) was < 0.1 mM and apoA-I was undetectable. Genomic DNA sequencing of the proband's apoA-I gene...

Read the complete abstract on PubMed

Topics

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

Share to Diabetes, Cardiovascular Risks, and Lipoproteins
Share to Lipid metabolism and disorders
Share to Lipoproteins and Cardiovascular Health

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8282791
DOI: 10.1172/jci116949

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.PMID 8282791Read ↗

Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiencySemantic proximity Read ↗

Apolipoprotein A-I deficiency. Biochemical and metabolic characteristics.Semantic proximity Read ↗

A cysteine-containing truncated apo A-I variant associated with HDL deficiency.Semantic proximity Read ↗

Complete Apo AI deficiency in an Iraqi Mandaean family: case studies and review of the literature.Semantic proximity Read ↗

Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia.Semantic proximity Read ↗

Rare apolipoprotein E variant identified in a patient with type III hyperlipidaemia.Semantic proximity Read ↗

Proteinuria and severe mixed dyslipidemia associated with a novel APOAV gene mutation.Semantic proximity Read ↗

A mutation in the human apolipoprotein A-I gene. Dominant effect on the level and characteristics of plasma high density lipoproteins.Semantic proximity Read ↗

Studies on an apolipoprotein C-II variant occurring in Caucasians.Semantic proximity Read ↗

Distinct C-terminus of the B subunit of factor XIII in a population-associated major phenotype: the first case of complete allele-specific alternative splicing products in the coagulation and fibrinolytic systems.Semantic proximity Read ↗

A novel nonsense apolipoprotein A-I mutation (apoA-I(E136X)) causes low HDL cholesterol in French Canadians.Semantic proximity Read ↗

Case report: retinopathy and neuropathy associated with complete apolipoprotein A-I deficiency.Semantic proximity Read ↗

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