Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile

OBJECTIVE: Xeroderma pigmentosum (XP) is a genetically and clinically heterogeneous disease, associated with an inherited defect in one of eight different genes (XPA to XPG and XPV). In addition to the early onset of the skin manifestations, the XP group A is marked by the presence of a mild to seve...

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Detalles Bibliográficos
Autores principales: Kindil, Zineb, Senhaji, Mohamed Amine, Bakhchane, Amina, Charoute, Hicham, Chihab, Soumia, Nadifi, Sellama, Barakat, Abdelhamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718079/
https://www.ncbi.nlm.nih.gov/pubmed/29208038
http://dx.doi.org/10.1186/s13104-017-3042-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718079/
https://www.ncbi.nlm.nih.gov/pubmed/29208038
http://dx.doi.org/10.1186/s13104-017-3042-6

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