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Article

Novel mutation (c.G1124A) in exon 9 of the APOB gene causes aberrant splicing and familial hypobetalipoproteinemia.

Clinical chemistry - 1 Jun 2007

Homer Vivienne M, George Peter M

Abstract excerpt

No abstract is available from the source.

Topics

Apolipoproteins B
Exons
Heterozygote
Humans
Hypobetalipoproteinemias
Male
Middle Aged
Mutation
Protein Splicing

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 17517592
DOI: 10.1373/clinchem.2007.086496

Genes

APOB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Related research

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Novel mutation (c.G1124A) in exon 9 of the APOB gene causes aberrant splicing and familial hypobetalipoproteinemia.PMID 17517592Read ↗

Novel APOB mutation in familial hypobetalipoproteinemia.Semantic proximity Read ↗

Identification of a Novel apoB Variant in a Family Exhibiting Hypocholesterolemia: Mechanistic InsightsSemantic proximity Read ↗

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.Semantic proximity Read ↗

A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia.Semantic proximity Read ↗

Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.Semantic proximity Read ↗

Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: APOB. Disease: normotriglyceridemic hypobetalipoproteinemia.Semantic proximity Read ↗

New mutations in APOB100 involved in familial hypobetalipoproteinemia.Semantic proximity Read ↗

Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length.Semantic proximity Read ↗

[Familial hypobetalipoproteinemia: clinical characterization of a new mutation in the APOB gene].Semantic proximity Read ↗

Lipid disorders and mutations in the APOB gene.Semantic proximity Read ↗

A truncated species of apolipoprotein B (B-38.7) in a patient with homozygous hypobetalipoproteinemia associated with diabetes mellitus.Semantic proximity Read ↗

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