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Article

A splice-junction mutation responsible for familial apolipoprotein A-II deficiency.

American journal of human genetics - 1 Apr 1990

Deeb S S, Takata K, Peng R L, Kajiyama G, Albers J J

Abstract excerpt

The first case of familial apolipoprotein A-II (apo A-II) deficiency was recently reported from Hiroshima, Japan, and designated apo A-IIHiroshima. The proband had no immunologically detectable apo A-II in her plasma. DNA sequence analysis showed that the proband was homozygous for a G----A transition at position 1 of intron 3 of the apo A-II gene. A sister of the proband, who had an intermediate level of plasma...

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Identifiers

PMID: 2107739
PMCID: PMC1683675

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