title: New compound heterozygous mutations in a Chinese family with lipoid proteinosis.
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, 57 Jiyan Road, Jinan, China.
authors.forename: C Y
authors.initials: CY
authors.lastname: Wang
authors.forename: P Z
authors.initials: PZ
authors.lastname: Zhang
authors.forename: F R
authors.initials: FR
authors.lastname: Zhang
authors.forename: J
authors.initials: J
authors.lastname: Liu
authors.forename: H Q
authors.initials: HQ
authors.lastname: Tian
authors.forename: L
authors.initials: L
authors.lastname: Yu
mesh_terms: D000328:Adult; D001483:Base Sequence; D018389:Codon, Nonsense; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense
chemical_list: D018389:Codon, Nonsense; C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins