A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D

Xeroderma pigmentosum (XP) group D, a severe disease often typified by extreme sun sensitivity, can be caused by ERCC2 mutations. ERCC2 encodes an adenosine triphosphate (ATP)-dependent DNA helicase, namely XP group D protein (XPD). The XPD, one of ten subunits of the transcription factor TFIIH, pla...

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Detalles Bibliográficos
Autores principales: Bui, Chi-Bao, Duong, Thao Thi Phuong, Tran, Vien The, Pham, Thuy Thanh T., Vu, Tung, Chau, Gia Cac, Vo, Thanh-Niem Van, Nguyen, Vinh, Trinh, Dieu-Thuong Thi, Hoang, Minh Van
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7008115/
https://www.ncbi.nlm.nih.gov/pubmed/32047639
http://dx.doi.org/10.1038/s41439-020-0089-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7008115/
https://www.ncbi.nlm.nih.gov/pubmed/32047639
http://dx.doi.org/10.1038/s41439-020-0089-z

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