First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP‐C founder mutation

BACKGROUND: Xeroderma pigmentosum is an autosomal recessive disease characterized by a high sensitivity to UV radiations. The disease is clinically and genetically heterogeneous, thus making accurate early clinical diagnosis difficult. Although the disease is considered rare worldwide, previous stud...

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Detalles Bibliográficos
Autores principales: Khalat, Najlaa, Messaoud, Olfa, Ben Rekaya, Mariem, Chargui, Mariem, Zghal, Mohamed, Zendah, Bashir, Saqer, Najat, Mokni, Mourad, Abdelhak, Sonia, Mohamed, Othman A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265042/
https://www.ncbi.nlm.nih.gov/pubmed/36812379
http://dx.doi.org/10.1002/mgg3.2158

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