Article
Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.
PLoS biology - 1 Oct 2006
Andressoo Jaan-Olle, Jans Judith, de Wit Jan, Coin Frederic, Hoogstraten Deborah, van de Ven Marieke, Toussaint Wendy, Huijmans Jan, Thio H Bing, van Leeuwen Wibeke J, de Boer Jan, Egly Jean-Marc, Hoeijmakers Jan H J, van der Horst Gijsbertus T J, Mitchell James R
Abstract excerpt
Although compound heterozygosity, or the presence of two different mutant alleles of the same gene, is common in human recessive disease, its potential to impact disease outcome has not been well documented. This is most likely because of the inherent difficulty in distinguishing specific biallelic effects from differences in environment or genetic background. We addressed the potential of different recessive...
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