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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2006
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1584416/
https://www.ncbi.nlm.nih.gov/pubmed/17020410
http://dx.doi.org/10.1371/journal.pbio.0040322

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