Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene.

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Article

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene.

Journal of lipid research - 1 Oct 2001

Tarugi P, Lonardo A, Gabelli C, Sala F, Ballarini G, Cortella I, Previato L, Bertolini S, Cordera R, Calandra S

Abstract excerpt

We report the clinical phenotype in three kindreds with familial heterozygous hypobetalipoproteinemia (FHBL) carrying novel truncated apolipoprotein Bs (apoBs) of different sizes (apoB-8.15, apoB-33.4 and apoB-75.7). In D.A. kindred, we found three carriers of a C-deletion in exon 10 leading to the synthesis of apoB-8.15 not detectable in plasma. They showed steatorrhea and fatty liver. In N.L. kindred, the...

Topics

Adult
Aged
Amino Acid Sequence
Apolipoproteins B
Base Sequence
Centrifugation, Density Gradient
DNA Mutational Analysis
Exons
Female
Humans
Lipids
Lipoproteins
Liver
Male
Mutation

Source

Open in PubMed

Identifiers

PMID: 11590210

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

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