Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing

BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a rare inherited disorder characterized by skin fragility leading to trauma‐induced subepidermal blisters and healing with scarring. DEB is caused by mutations in COL7A1, the gene encoding for type VII collagen (COLVII). The DEB inheritance trait...

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Detalles Bibliográficos
Autores principales: Ma, Thi Huyen Thuong, Luong, Thi Lan Anh, Hoang, Thu Lan, Nguyen, Thi Thanh Hoa, Vu, Thi Ha, Tran, Van Khoa, Nguyen, Duy Bac, Trieu, Tien Sang, Nguyen, Hai Ha, Nong, Van Hai, Nguyen, Dang Ton
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404230/
https://www.ncbi.nlm.nih.gov/pubmed/34286919
http://dx.doi.org/10.1002/mgg3.1748

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