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  • Title: De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene.
    Author: Schwarzman AL, Kowalska A, Rujner J, Vlasov MS, Gaitskhoki VS.
    Journal: Hum Genet; 1992; 90(1-2):169-70. PubMed ID: 1427771.
    Abstract:
    A proband homozygous for the PiZ allele of the alpha-1-antitrypsin gene was found to be a heterozygous carrier of the additional nucleotide substitution (C-T) within the intron IV-exon V junction (position 9955 in intron IV, 3 bp upstream of its 3'-splice site). This mutation was not found in DNA from either the PiZ heterozygous parents or the PiZ homozygous brother of proband.
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