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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Bibliografiska uppgifter
I publikationen:Front Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Frontiers Media S.A. 2019
Ämnen:
Genetics
Länkar: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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