Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a defect in the nucleotide excision repair (NER) DNA repair pathway, characterized by severe sunburn development of freckles, premature skin aging, and susceptibility to develop cancers at an average age of eight. XP is an exam...

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Dettagli Bibliografici
Pubblicato in:Front Genet
Autori principali: Chikhaoui, Asma, Elouej, Sahar, Nabouli, Imen, Jones, Meriem, Lagarde, Arnaud, Ben Rekaya, Meriem, Messaoud, Olfa, Hamdi, Yosr, Zghal, Mohamed, Delague, Valerie, Levy, Nicolas, De Sandre-Giovannoli, Annachiara, Abdelhak, Sonia, Yacoub-Youssef, Houda
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2019
Soggetti:
Genetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6383105/
https://ncbi.nlm.nih.gov/pubmed/30838033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00111
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