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[Asymptomatic abetalipoproteinemia associated with partial apoprotein B deficiency: a familial case report]
Annales De Medecine Interne
|January 1, 1982
Abstract:
The authors report a case of familial asymptomatic abetalipoproteinemia. The propositus has total abetalipoproteinemia associated with a partial apoprotein B defect. His two daughters have a subtotal betalipoprotein deficiency. This familial case, with autosomal dominant transmission, seems different from other reports. It supports the hypothesis that the primary involvement is a deficiency in apoprotein B synthesis, which appears more closely correlated with clinical symptoms.
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