title: Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients.
authors.affiliation: University of Amsterdam, Department of Clinical Chemistry, The Netherlands.
authors.forename: L
authors.initials: L
authors.lastname: Ijlst
authors.forename: W
authors.initials: W
authors.lastname: Oostheim
authors.forename: M
authors.initials: M
authors.lastname: van Werkhoven
authors.forename: M A
authors.initials: MA
authors.lastname: Willemsen
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D000483:Alleles; D003545:Cysteine / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D017354:Point Mutation; D016111:Sjogren-Larsson Syndrome / Q000201:enzymology* / Q000235:genetics; D013912:Threonine / Q000235:genetics*
chemical_list: D013912:Threonine; D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase; D003545:Cysteine