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Case Reports
. 1978 Nov;30(6):653-9.

A new allele of human alpha1-antitrypsin: PiNhampton

Case Reports

A new allele of human alpha1-antitrypsin: PiNhampton

P Arnaud et al. Am J Hum Genet. 1978 Nov.

Abstract

A new allele of alpha1AT is described. By isoelectric focusing, the microheterogeneous pattern of the variant was similar to but more cathodal than that of Pi N. This allele has therefore been tentatively designated PiNhampton(Nham). Further examination revealed that the minor bands of Nham are indistinguishable from the major bands of Z by isoelectric focusing, and a careful family study was necessary to clearly define the proband's phenotype. Pi Nham was found in association with M1, S, and Z, but to date its possession is not apparently related to clinical disorders or reduced serum levels of alpha1AT.

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References

    1. J Immunol Methods. 1977;16(3):221-31 - PubMed
    1. J Clin Invest. 1977 Dec;60(6):1442-4 - PubMed
    1. Clin Genet. 1977 Aug;12(2):77-9 - PubMed
    1. Hum Genet. 1977 Oct 14;38(3):325-32 - PubMed
    1. Hum Genet. 1977 Jul 26;37(3):303-13 - PubMed

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