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Article

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.

Human genetics - 1 Aug 1997

Sillén A, Jagell S, Wadelius C

Abstract excerpt

Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by congenital ichthyosis, spastic di- or tetraplegia, and mental retardation. SLS has been reported to occur in many populations but the highest incidence is in the north of Sweden. The gene causing SLS encodes a fatt...

Topics

Aldehyde Oxidoreductases
Canada
Europe
Female
Genotype
Haplotypes
Humans
Male
Middle East
Pedigree
Point Mutation
Sjogren-Larsson Syndrome
Sweden

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 9254849
DOI: 10.1007/s004390050490

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9254849-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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