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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2006
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Research Article
Accesso online: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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