Rescue of Progeria in Trichothiodystrophy by Homozygous Lethal Xpd Alleles

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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Bibliographic Details
Main Authors: 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: Online
Language:English
Published: Public Library of Science 2006
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1584416/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1584416/

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