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 trans...
Topics
- Apolipoprotein A-II
- Apolipoproteins A
- Base Sequence
- DNA
- Female
- Humans
- Lipoproteins, HDL
- Male
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Pedigree
- Polymerase Chain Reaction
- RNA Splicing