A common deletion mutation in European patients with Sjögren-Larsson syndrome.

doi:10.1006/bmme.1997.2640

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Article

A common deletion mutation in European patients with Sjögren-Larsson syndrome.

Biochemical and molecular medicine - 1 Dec 1997

Rizzo W B, Carney G, De Laurenzi V

Abstract excerpt

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase (FALDH). We identified a frequent FALDH mutation in exon 9 among SLS probands of European descent. This mutati...

Topics

Aldehyde Oxidoreductases
Alleles
Europe
Humans
Sequence Deletion
Sjogren-Larsson Syndrome

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