Article
Characterization of two new human apolipoprotein A-I variants: apolipoprotein A-I Tsushima (Trp-108-->Arg) and A-I Hita (Ala-95-->Asp).
Biochimica et biophysica acta - 6 Oct 1994
Araki K, Sasaki J, Matsunaga A, Takada Y, Moriyama K, Hidaka K, Arakawa K
Abstract excerpt
Two unrelated subjects with new variants of apolipoprotein (apo) A-I were found during screening with isoelectric focusing (IEF) gel analysis. In the first case, apo A-I Tsushima, sequencing following amplification by the polymerase chain reaction (PCR) revealed a residue 108 missense mutation (TGG-->CGG, Trp-->Arg) in exon 4. The proband of apo A-I Tsushima was heterozygous for this mutation. The second case,...
Topics
- Aged
- Amino Acid Sequence
- Apolipoprotein A-I
- Base Sequence
- Electrophoresis, Gel, Two-Dimensional
- Female
- Humans
- Isoelectric Focusing
- Male
- Middle Aged
- Molecular Sequence Data