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: Jaan-Olle Andressoo, Judith Jans, Jan de Wit, Frederic Coin, Deborah Hoogstraten, Marieke van de Ven, Wendy Toussaint, Jan Huijmans, H Bing Thio, Wibeke J van Leeuwen, Jan de Boer, Jean-Marc Egly, Jan H J Hoeijmakers, Gijsbertus T J van der Horst, James R Mitchell
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2006-10-01
Series:PLoS Biology
Online Access:http://europepmc.org/articles/PMC1584416?pdf=render

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http://europepmc.org/articles/PMC1584416?pdf=render

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