Rescue of Progeria in Trichothiodystrophy by Homozygous Lethal Xpd Alleles

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...

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Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2006
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1584416/
https://ncbi.nlm.nih.gov/pubmed/17020410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pbio.0040322
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