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Sjögren–Larsson syndrome: Molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency

✍ Scribed by William B. Rizzo


Book ID
116987910
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
696 KB
Volume
90
Category
Article
ISSN
1096-7192

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Sjögren-Larsson syndrome: Diversity of m
✍ William B. Rizzo; Gael Carney 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB

## Communicated by Jan P. Kraus Sjo ¨gren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disease is caused by mutations in the ALDH3A2 gene (also known as FALDH and ALDH10) on chromosome 17p11.2 th