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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Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2006
Teme:
Research Article
Online pristup: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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