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A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjögren-Larsson syndrome

✍ Scribed by Nakano, Hajime; Akasaka, Eijiro; Rokunohe, Daiki; Yokoyama, Shohei; Toyomaki, Yuka; Umegaki, Noriko; Mitsuhashi, Yoshihiko; Sawamura, Daisuke

Book ID
119293389
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
332 KB
Volume
52
Category
Article
ISSN
0923-1811

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## 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