Two apolipoprotein B gene defects in a kindred with hypobetalipoproteinemia, one of which results in a truncated variant, apoB-61, in VLDL and LDL.

We report the presence of two distinct defects of the gene for apolipoprotein B, one resulting in a new truncated variant, apoB-61, in a kindred with familial hypobetalipoproteinemia (FHB). The proband (age 33) and a sister (age 36) are both compound heterozygotes with total cholesterol levels of 39...

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Bibliografiske detaljer

Principais autores:	CR Pullinger, E Hillas, DA Hardman, GC Chen, JM Naya-Vigne, JA Iwasa, RL Hamilton, JM Lalouel, RR Williams, JP Kane
Format:	Artigo
Sprog:	Inglês
Udgivet:	Elsevier 1992-05-01
Serier:	Journal of Lipid Research
Online adgang:	http://www.sciencedirect.com/science/article/pii/S0022227520414348
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