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Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren–Larsson syndrome

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


Book ID
114008661
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
101 KB
Volume
130-132
Category
Article
ISSN
0009-2797

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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