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Pseudoxanthoma Elasticum: Oxidative Stress and Antioxidant Diet in a Mouse Model (Abcc6−/−)

✍ Scribed by Jiang, Qiujie; Uitto, Jouni; Li, Qiaoli

Book ID
110050141
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
578 KB
Volume
128
Category
Article
ISSN
0022-202X

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Pseudoxanthoma elasticum: Point mutation
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11
✍ Ilaria Meloni; Pietro Rubegni; Giovambattista De Aloe; Mirella Bruttini; Elisa P 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB

Pseudoxanthoma elasticum (PXE) is a mendelian disorder characterized by calcification of elastic fibers in skin, arteries, and retina. It results in dermal lesions, arterial insufficiency and retinal hemorrhages, leading to macular degeneration. PXE is transmitted either as an autosomal dominant or