title: Identification of a novel splicing mutation of ECM1 in a rare lipoid proteinosis family.
authors.forename: Dong
authors.initials: D
authors.lastname: Gao
authors.forename: Peiwen
authors.initials: P
authors.lastname: Lian
authors.forename: Rui
authors.initials: R
authors.lastname: Wang
authors.forename: Liangming
authors.initials: L
authors.lastname: Zhang
authors.forename: Xiaolei
authors.initials: X
authors.lastname: Wang
authors.forename: Jian
authors.initials: J
authors.lastname: Chen
mesh_terms: D017398:Alternative Splicing; D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D012873:Skin Diseases, Genetic / Q000235:genetics*; D055815:Young Adult
chemical_list: C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins