Laddar...
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect
Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Genetically, it is assigned to eight complementation...
Sparad:
| I publikationen: | Proc Natl Acad Sci U S A |
|---|---|
| Huvudupphovsmän: | , , , , , , , , , , , , , , , , , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
National Academy of Sciences
2016
|
| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4780618/ https://ncbi.nlm.nih.gov/pubmed/26884178 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1519444113 |
| Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|