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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Detalhes bibliográficos
Publicado no:BMC Res Notes
Main Authors: Kindil, Zineb, Senhaji, Mohamed Amine, Bakhchane, Amina, Charoute, Hicham, Chihab, Soumia, Nadifi, Sellama, Barakat, Abdelhamid
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research Note
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5718079/
https://ncbi.nlm.nih.gov/pubmed/29208038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13104-017-3042-6
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