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 mutation is a 2-bp deletion of nucleotides GA 1297-1298 and results in premature termination of translation at codon 435...
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