title: A novel splice-site ECM1 gene mutation in a Lebanese girl with lipoid proteinosis.
authors.affiliation: Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Ossama
authors.initials: O
authors.lastname: Abbas
authors.forename: Muhammad
authors.initials: M
authors.lastname: Farooq
authors.forename: Jinane
authors.initials: J
authors.lastname: El Khoury
authors.forename: Abdul-Ghani
authors.initials: AG
authors.lastname: Kibbi
authors.forename: Hiroki
authors.initials: H
authors.lastname: Fujikawa
authors.forename: Atsushi
authors.initials: A
authors.lastname: Fujimoto
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Shimomura
authors.forename: Mazen
authors.initials: M
authors.lastname: Kurban
mesh_terms: D002648:Child; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007861:Lebanon; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics*; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics
chemical_list: C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins; D022821:RNA Splice Sites