Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole-exome sequencing,Molecular Genetics & Genomic Medicine

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Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole-exome sequencing
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2021-07-19 , DOI: 10.1002/mgg3.1748
Thi Huyen Thuong Ma _{1,

2} , Thi Lan Anh Luong ₃ , Thu Lan Hoang ₃ , Thi Thanh Hoa Nguyen ₁ , Thi Ha Vu ₃ , Van Khoa Tran ₄ , Duy Bac Nguyen ₄ , Tien Sang Trieu ₄ , Hai Ha Nguyen _{1,

2} , Van Hai Nong _{1,

2} , Dang Ton Nguyen _{1,

2}

Affiliation

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 is divided into dominant dystrophic epidermolysis bullosa (DDEB) and recessive dystrophic epidermolysis bullosa (RDEB).

中文翻译：

全外显子组测序揭示越南隐性营养不良性大疱性表皮松解症患者 COL7A1 基因中新的和非常罕见的致病变异

营养不良性大疱性表皮松解症 (DEB) 是一种罕见的遗传性疾病，其特征是皮肤脆弱，导致外伤引起的表皮下水疱和瘢痕愈合。DEB 是由编码 VII 型胶原蛋白 (COLVII) 的基因 COL7A1 中的突变引起的。DEB遗传性状分为显性营养不良性大疱性表皮松解症（DDEB）和隐性营养不良性大疱性表皮松解症（RDEB）。

更新日期：2021-08-30

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