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Founder Mutations in Xeroderma Pigmentosum

In this issue, Soufir et al. report a founder mutation in the XPC DNA repair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia) of northern Africa. These patients have a high frequency of skin cancer. The presence of this founder mutation pr...

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Autors principals: Tamura, Deborah, DiGiovanna, John J., Kraemer, Kenneth H.
Format: Artigo
Idioma:Inglês
Publicat: 2010
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3486739/
https://ncbi.nlm.nih.gov/pubmed/20463673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2010.76
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