Associated Papers
Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
Amr K et al.
Archives of Dermatological Research, 2019
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
Abdel-Hamid MS et al.
Journal of Human Genetics, 2019
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Diociaiuti A et al.
Orphanet Journal of Rare Diseases, 2016
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
Keller MA et al.
Nature Communications, 2014
Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study.
Wang LL et al.
Alcohol (fayetteville, N.y.), 2010
Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome.
Lloyd MD et al.
Journal of Enzyme Inhibition and Medicinal Chemistry, 2007
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
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