Key result
A 10 base pair deletion in exon 4 of the apo epsilon gene was identified in a patient with familial apolipoprotein E deficiency, causing delayed catabolism of atherogenic lipoprotein remnants.
Population
A patient with generalised xanthomatosis, familial apolipoprotein E deficiency, and unusual type III…
Design
Case_report
Authors
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May support apoE sequencing in unexplained xanthomatosis; leaves open therapeutic implications of this variant.
Case Report (n=1)
Identifies a specific 10 base pair deletion in the apo epsilon gene responsible for familial apo E deficiency and severe early-onset xanthomatosis.
Giso Feussner (1996) conducted a case report in Generalised xanthomatosis and familial apolipoprotein E deficiency (n=1). Familial apolipoprotein E deficiency (10 base pair deletion in exon 4 of apo epsilon gene) was evaluated on Molecular defect and histological features. A 10 base pair deletion in exon 4 of the apo epsilon gene was identified in a patient with familial apolipoprotein E deficiency, causing delayed catabolism of atherogenic lipoprotein remnants.
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