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Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 in a patient with homozygous hypobetalipoproteinemia.

We report the characterization of a new truncated apolipoprotein (apo) B, originally identified in the plasma of a homozygous proband and three heterozygous family members with hypobetalipoproteinemia. Using Western blotting, the truncated apoB species was estimated to be 27.5% the size of apoB-100....

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Autors principals: P J Talmud, E S Krul, M Pessah, G Gay, G Schonfeld, S E Humphries, R Infante
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 1994-03-01
Col·lecció:Journal of Lipid Research
Accés en línia:http://www.sciencedirect.com/science/article/pii/S0022227520411976
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