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

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

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...

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Bibliographic Details
Main Authors: Patrizia Tarugi, Amedeo Lonardo, Carlo Gabelli, Franca Sala, Giorgia Ballarini, Irene Cortella, Lorenzo Previato, Stefano Bertolini, Renzo Cordera, Sebastiano Calandra
Format: Article
Language:English
Published: Elsevier 2001-10-01
Series:Journal of Lipid Research
Subjects:
truncated apoBs
fatty liver
lipid malabsorption
carotid atherosclerosis
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520322082

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http://www.sciencedirect.com/science/article/pii/S0022227520322082

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