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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,...

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PMID: 7918609

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