Article
Large contiguous gene deletions in Sjögren-Larsson syndrome.
Molecular genetics and metabolism - 1 Nov 2011
Engelstad Holly, Carney Gael, S'aulis Dana, Rise Janae, Sanger Warren G, Rudd M Katharine, Richard Gabriele, Carr Christopher W, Abdul-Rahman Omar A, Rizzo William B
Abstract excerpt
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. More than 70 mutations have been identified in SLS patients, including small deletions or insertions, missense mutations, splicing defects and complex...
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