Novel ALDH3A2 Heterozygous Mutations in a Japanese Family with Sjögren–Larsson Syndrome

This publication has 17 references indexed in Scilit:

• Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms
  Journal of Dermatological Science, 2006
• Sjögren-Larsson syndrome: Diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2)
  Human Mutation, 2005
• A Novel Point Mutation of the FALDH Gene in a Japanese Family with Sjögren–Larsson Syndrome
  Journal of Investigative Dermatology, 2000
• The Molecular Basis of Sjögren-Larsson Syndrome: Mutation Analysis of the Fatty Aldehyde Dehydrogenase Gene
  American Journal of Human Genetics, 1999
• Relationships within the aldehyde dehydrogenase extended family
  Protein Science, 1999
• Human Fatty Aldehyde Dehydrogenase Gene (ALDH10): Organization and Tissue-Dependent Expression
  Genomics, 1997
• Genomic Organization and Expression of the Human Fatty Aldehyde Dehydrogenase Gene (FALDH)
  Genomics, 1997
• Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
  Nature Genetics, 1996
• Interleukin-1 activates a novel protein kinase cascade that results in the phosphorylation of hsp27
  Cell, 1994
• Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses
  British Journal of Dermatology, 1994