Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing

Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of inherited DEB. In the present study, whole-exome sequencing was conducted on 12 individuals from the same affected family and a rare heterozygous variation was identified in the collagen type VII, α1 (COL7A1) gene, namely c.6...

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Detalles Bibliográficos
Autores principales: Yang, Yanhui, Gao, Yangmin, Zhang, Mengna, Qian, Hua, Zhao, Ke, Wang, Weijuan, Ma, Yanxiu, Zhang, Dan, Li, Xiaoguang, Hu, Fengming, Sun, Xiaoming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10562958/
https://www.ncbi.nlm.nih.gov/pubmed/37822584
http://dx.doi.org/10.3892/etm.2023.12201

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