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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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書目詳細資料
發表在:Biomed Res Int
Main Authors: Bensenouci, Salima, Louhibi, Lotfi, De Verneuil, Hubert, Mahmoudi, Khadidja, Saidi-Mehtar, Nadhira
格式: Artigo
語言:Inglês
出版: Hindawi Publishing Corporation 2016
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在線閱讀: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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