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Article

Endoplasmic reticulum stress and collagenous formation anomalies in vascular-type Ehlers-Danlos syndrome via electron microscopy.

The Journal of dermatology - 1 Apr 2021

Ishikawa Satoko, Kosho Tomoki, Kaminaga Tomoko, Miyamoto Manabu, Hamasaki Yoichiro, Yoshihara Shigemi, Hayashi Shujiro, Igawa Ken

Abstract excerpt

Vascular-type Ehlers-Danlos syndrome (vEDS) is an autosomal-dominant inherited disorder caused by a deficit in collagen III. It results from heterogeneous mutations in the α1 collagen III gene (COL3A1) and is associated with life-threatening complications, even in younger patients. However, the details of the pathogenesis underlying the COL3A1 mutation causing vEDS remain unclear. Here, we focus on anomalies in...

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PMID: 33523542
DOI: 10.1111/1346-8138.15766

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