title: Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.
authors.forename: Liran
authors.initials: L
authors.lastname: Horev
authors.forename: Dr Uwe
authors.initials: DU
authors.lastname: Wollina
authors.forename: Tamara
authors.initials: T
authors.lastname: Potikha
authors.forename: Ariela
authors.initials: A
authors.lastname: Hafner
authors.forename: Arieh
authors.initials: A
authors.lastname: Ingber
authors.forename: Lu
authors.initials: L
authors.lastname: Liu
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001706:Biopsy; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017384:Sequence Deletion; D012867:Skin / Q000473:pathology
chemical_list: D018388:Codon, Terminator; C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins