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Article

RNA-based mutation screening in German families with Sjögren-Larsson syndrome.

European journal of human genetics : EJHG - 1 Apr 2000

Kraus C, Braun-Quentin C, Ballhausen W G, Pfeiffer R A

Abstract excerpt

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessively inherited disorder characterised by mental retardation, spasticity and ichthyosis. SLS patients have a profound deficiency in fatty aldehyde dehydrogenase (FALDH) activity. The human cDNA of FALDH has been shown to map to the SLS locus on chromosome 17p11.2. Here we describe a method based on reverse transcriptase-polymerase chain reaction (RT-PCR)...

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PMID: 10854114
DOI: 10.1038/sj.ejhg.5200453

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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