Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients

Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in the rare recessive genetic disorder xeroderma pigmentosum (XP). Many XP patients are compound heterozygotes with a “causative” XPD point mutation R683W and different second mutant alleles, considered “null alleles.”...

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Hlavní autoři: Ueda, Takahiro, Compe, Emmanuel, Catez, Philippe, Kraemer, Kenneth H., Egly, Jean-Marc
Médium: Artigo
Jazyk:Inglês
Vydáno: The Rockefeller University Press 2009
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2806454/
https://ncbi.nlm.nih.gov/pubmed/19934020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20091892
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