Article
Correcting the PiZ defect in the alpha 1-antitrypsin gene of human cells by targeted homologous recombination.
Laboratory investigation; a journal of technical methods and pathology - 1 May 1994
Savransky E, Hytiroglou P, Harpaz N, Thung S N, Johnson E M
Abstract excerpt
BACKGROUND: Approximately 1% of people in North America carry the PiZ defect in the gene encoding the serum protein alpha 1-antitrypsin (AAT). Homozygotes are subject to early onset emphysema and liver disease. Here we demonstrate a means of correcting this gene defect, a point mutation in chromosome 14, by targeted homologous recombination. EXPERIMENTAL DESIGN: To target recombination to the AAT locus in human...
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