Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disease caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH), an enzyme involved in lipid metabolism. We performed mutation analysis in probands or fetuses from 13 unrelated SLS families and identifi
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren–Larsson syndrome
✍ Scribed by Biagio Didona; Andrea Codispoti; Enrico Bertini; Wiliam B. Rizzo; Gael Carney; Giovanna Zambruno; Carlo Dionisi-Vici; Mauro Paradisi; Cristina Pedicelli; Gerry Melino; Alessandro Terrinoni
- Publisher
- Nature Publishing Group
- Year
- 2007
- Tongue
- English
- Weight
- 424 KB
- Volume
- 52
- Category
- Article
- ISSN
- 1435-232X
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