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1: Hum Genet. 1990 Aug;85(3):381-2.Links

Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant.

Graham A, Hayes K, Weidinger S, Newton CR, Markham AF, Kalsheker NA.

Department of Biotechnology, ICI Pharmaceuticals, Macclesfield, Cheshire, UK.

By sequence analysis of the complete protein-coding region of the human alpha-1-antitrypsin gene using polymerase chain reaction techniques, we have characterised one of the normal variants, M3. We have identified a single point mutation between M1 Val213 and M3 at codon position 376 which is a GAA(Glu) to GAC(Asp) transversion.

PMID: 2394452 [PubMed - indexed for MEDLINE]