Enzyme-Labelled Oligonucleotides for the Detection of α 1 -Antitrypsin Deficiency: Optimization of Enzyme Activity for Single Point Mutation Detection

Rossiter BJF Caskey CT . Molecular scanning methods for mutation detection. J Biol Chem 1990; 265: 12753–6.

Newton CR Kalsheker N Graham A Powell S Gammack A Riley J Diagnosis of α₁-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products. Nucleic Acids Res 1988; 16: 8233–43.

Cox DW . α1-antitrypsin deficiency. In: Scriver CR Beaudet AL Sly WS Vale D . (eds). The Metabolic Basis of Inherited Disease, Vol II. New York: McGraw-Hill Information Services Company, 1989: 2409–37.

Gunneberg A Hayes K Scobie G Kalsheker N. Competition improves the specificity of single point mutation detection. Clin Chem 1993; 39: 2157–62.