Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder. Considering that XP patients have a defect of the nucleotide excision repair (NER) pathway which enables them to repair DNA damage caused by UV light, they have an increased risk of developing skin and eyes cancers. In the present st...

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Detalles Bibliográficos
Publicado en:Biomed Res Int
Autores principales: Bensenouci, Salima, Louhibi, Lotfi, De Verneuil, Hubert, Mahmoudi, Khadidja, Saidi-Mehtar, Nadhira
Formato: Artigo
Lenguaje:Inglês
Publicado: Hindawi Publishing Corporation 2016
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4931069/
https://ncbi.nlm.nih.gov/pubmed/27413738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/2180946
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