title: Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome.
authors.forename: Akihiko
authors.initials: A
authors.lastname: Shibaki
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D002648:Child; D003594:Cytoplasmic Granules / Q000473:pathology; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D035781:Siblings; D016111:Sjogren-Larsson Syndrome / Q000235:genetics* / Q000473:pathology*
chemical_list: D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase