Llwytho...
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.”...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
The Rockefeller University Press
2009
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| Pynciau: | |
| Mynediad Ar-lein: | 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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