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. 1990 Aug;85(3):381-2.
doi: 10.1007/BF00206766.

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

A Graham  1 , K Hayes, S Weidinger, C R Newton, A F Markham, N A Kalsheker
Affiliations

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

A Graham et al. Hum Genet. 1990 Aug.

Abstract

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.

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References

    1. Lancet. 1986 Sep 27;2(8509):741-2 - PubMed
    1. Nucleic Acids Res. 1988 Sep 12;16(17):8233-43 - PubMed
    1. Hum Genet. 1985;71(1):27-9 - PubMed
    1. J Biol Chem. 1986 Dec 5;261(34):15989-94 - PubMed
    1. Am J Hum Genet. 1988 Sep;43(3):322-30 - PubMed

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