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...

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Bibliografiska uppgifter
I publikationen:Proc Natl Acad Sci U S A
Huvudupphovsmän: Fassihi, Hiva, Sethi, Mieran, Fawcett, Heather, Wing, Jonathan, Chandler, Natalie, Mohammed, Shehla, Craythorne, Emma, Morley, Ana M. S., Lim, Rongxuan, Turner, Sally, Henshaw, Tanya, Garrood, Isabel, Giunti, Paola, Hedderly, Tammy, Abiona, Adesoji, Naik, Harsha, Harrop, Gemma, McGibbon, David, Jaspers, Nicolaas G. J., Botta, Elena, Nardo, Tiziana, Stefanini, Miria, Young, Antony R., Sarkany, Robert P. E., Lehmann, Alan R.
Materialtyp: Artigo
Språk:Inglês
Publicerad: National Academy of Sciences 2016
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PNAS Plus
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
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