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The Molecular Basis of Sjögren-Larsson Syndrome: Mutation Analysis of the Fatty Aldehyde Dehydrogenase Gene

✍ Scribed by William B. Rizzo; Gael Carney; Zhili Lin


Book ID
117853090
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
431 KB
Volume
65
Category
Article
ISSN
0002-9297

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Sjögren-Larsson syndrome: Seven novel mu
✍ Gael Carney; Shu Wei; William B. Rizzo 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 319 KB

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