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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...

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PMID: 11590210

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