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Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function

✍ Scribed by Jayne S. Weiss; Howard S. Kruth; Helena Kuivaniemi; Gerard Tromp; Jayaprakash Karkera; Sunil Mahurkar; Walter Lisch; William J Dupps Jr.; Peter S. White; R. Scott Winters; Chaesik Kim; Christopher J. Rapuano; John Sutphin; Jim Reidy; Fung-Rong Hu; Da Wen Lu; Neil Ebenezer; Michael L. Nickerson

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 497 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32328

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Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function

✍ Jayne S. Weiss; Howard S. Kruth; Helena Kuivaniemi; Gerard Tromp; Jayaprakash Ka 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 520 KB

## Abstract Schnyder crystalline corneal dystrophy (SCCD) is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal deposition of cholesterol and phospholipids. Recently, six different mutations on the __UBIAD1__ gene on chromosome 1p36 were fou