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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.”...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The Rockefeller University Press
2009
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806454/ https://www.ncbi.nlm.nih.gov/pubmed/19934020 http://dx.doi.org/10.1084/jem.20091892 |