Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome (Q28289937)

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I Anton-Lamprecht

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C Braun-Quentin

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C S Kraus

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B S Sayli

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C Ayuso

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S Jagell

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W Küster

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C Wadelius

Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression

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language of work or name

English

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publication date

1998

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published in

Human Mutation

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volume

12

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issue

6

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page(s)

377-84

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cites work

1 reference

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Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

21 January 2018

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Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients

21 January 2018

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Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13

21 January 2018

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Specific changes in the fundus typical for the Sjögren-Larsson syndrome. An ophthalmological study of 35 patients.

21 January 2018

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Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization

21 January 2018

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Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic origins

21 January 2018

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 January 2018

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The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association.

21 January 2018

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

21 January 2018

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Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts

21 January 2018

1 reference

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Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH)

21 January 2018

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

21 January 2018

1 reference

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