Summary
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, 3bp 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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Schwarzman, A.L., Kowalska, A., Rujner, J. et al. De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene. Hum Genet 90, 169–170 (1992). https://doi.org/10.1007/BF00210767
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DOI: https://doi.org/10.1007/BF00210767