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Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide excision repair gene XPA vary significantly in different populations. No B...

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Bibliografische gegevens
Gepubliceerd in:Int J Mol Sci
Hoofdauteurs: Santiago, Karina Miranda, França de Nóbrega, Amanda, Rocha, Rafael Malagoli, Rogatto, Silvia Regina, Achatz, Maria Isabel
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2015
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4425119/
https://ncbi.nlm.nih.gov/pubmed/25913378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms16048988
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