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De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene

✍ Scribed by A. L. Schwarzman; A. Kowalska; J. Rujner; M. S. Vlasov; V. S. Gaitskhoki

Publisher: Springer
Year: 1992
Tongue: English
Weight: 208 KB
Volume: 90
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00210767

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✦ Synopsis

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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