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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Detalles Bibliográficos
Autores principales: Santiago, Karina Miranda, França de Nóbrega, Amanda, Rocha, Rafael Malagoli, Rogatto, Silvia Regina, Achatz, Maria Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2015
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425119/
https://www.ncbi.nlm.nih.gov/pubmed/25913378
http://dx.doi.org/10.3390/ijms16048988

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