Article
Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene.
Biochemical and biophysical research communications - 15 Jan 1992
Naganawa S, Kodama T, Aburatani H, Matsumoto A, Itakura H, Takashima Y, Kawamura M, Muto Y
Abstract excerpt
Normotriglyceridemic abetalipoproteinemia is a rare familial disorder characterized by an isolated deficiency of apoB-100. We have previously reported a patient with this disease, who had normal apoB-48 but no apoB-100. To elucidate the genetic abnormalities in this family, we studied the linkage of apoB gene using three genetic markers. The proband and her affected brother showed completely different apoB gene...
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