Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa

BACKGROUND: Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss‐of‐function mutation in the gene encoding ty...

Descripción completa

Detalles Bibliográficos
Autores principales: Yang, Neng, Ma, Yongyi, Yao, Hong, Chang, Qing, Zhang, Victor, Liang, Zhiqing, Cai, Xiongwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434731/
https://www.ncbi.nlm.nih.gov/pubmed/32537942
http://dx.doi.org/10.1002/mgg3.1347

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434731/
https://www.ncbi.nlm.nih.gov/pubmed/32537942
http://dx.doi.org/10.1002/mgg3.1347

Ejemplares similares