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Article

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.

Human mutation - 1 Jan 1998

Sillén A, Anton-Lamprecht I, Braun-Quentin C, Kraus C S, Sayli B S, Ayuso C, Jagell S, Küster W, Wadelius C

Abstract excerpt

The gene encoding the human fatty aldehyde dehydrogenase (FALDH) is located on 17p11.2, causing Sjögren-Larsson syndrome (SLS) when mutated. SLS is an autosomal recessive disorder characterized by a combination of mental retardation, congenital ichthyosis, and spastic di- or tetraplegia. We repor...

Topics

Aldehyde Oxidoreductases
DNA
DNA Mutational Analysis
Germany
Humans
Lebanon
Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
Sjogren-Larsson Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spain

Sweden

Turkey

Source

Identifiers

PMID: 9829906
DOI: 10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9829906-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.PMID 9829906Read ↗

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