Article

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

2001-10-01

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 proban...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ba58edb3-f719-5e90-9d01-30640e9d32c7
DOI: 10.1016/s0022-2275(20)32208-2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B geneDOI 10.1016/s0022-2275(20)32208-2Read

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

Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations.Semantic proximity Read

Hypobetalipoproteinemia associated with apo B-48.4, a truncated protein only 14 amino acids longer than apo B-48.Semantic proximity Read

Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene.Semantic proximity Read

Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B.Semantic proximity Read

Dysbetalipoproteinemia in a kindred with hypobetalipoproteinemia due to mutations in the genes for ApoB (ApoB-70.5) and ApoE (ApoE2).Semantic proximity Read

A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.Semantic proximity Read

The hypobetalipoproteinemias.Semantic proximity Read

Familial hypobetalipoproteinemia: a reviewSemantic proximity Read

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

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

Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation.Semantic proximity Read