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Article

Mutations associated with Sjögren-Larsson syndrome.

Annals of human genetics - 1 May 1997

Tsukamoto N, Chang C, Yoshida A

Abstract excerpt

Sjögren-Larsson syndrome (SLS), a rare autosomal disorder characterized by ichthyosis, spastic neurological disorders and oligophrenia, is associated with deficiency of fatty aldehyde dehydrogenase encoded by a gene on chromosome 17q11.2. Mutations of the gene (GDB symbol ALDH10) were recently identified in three SLS patients. Another aldehyde dehydrogenase isozyme. ALDH3, also has a high activity for fatty...

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PMID: 9250352
DOI: 10.1046/j.1469-1809.1997.6130235.x

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