Varaico: Literature-Extracted Genetic Variants

Gene:ADH5
Variant:p.D245N
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ADH5

NM_000671.4:p.D245N

Associated Papers

Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.

Cho KH et al.

Clinical Genetics, 2018

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.

Kariminejad A et al.

European Journal of Medical Genetics, 2018

A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.

Keller MA et al.

Nature Communications, 2014

25047030 (PubMed )
Supplement: ncomms5439-s1.pdf

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

Sarret C et al.

Journal of the Neurological Sciences, 2012

Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome.

Lloyd MD et al.

Journal of Enzyme Inhibition and Medicinal Chemistry, 2007

Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).

Rizzo WB et al.

Human Mutation, 2005

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.

Willemsen MA et al.

Brain : a Journal of Neurology, 2001

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Rizzo WB et al.

American Journal of Human Genetics, 1999

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

Sillén A et al.

Human Mutation, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."