@article{e012b4cb7ea74c9591e4dc98935b50a4,
title = "Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation",
keywords = "Adult, Amino Acid Substitution, Biopsy, Codon, Terminator, DNA Mutational Analysis, Exons, Extracellular Matrix Proteins, Frameshift Mutation, Genetic Predisposition to Disease, Homozygote, Humans, Lipoid Proteinosis of Urbach and Wiethe, Male, Middle Aged, Phenotype, Sequence Deletion, Skin",
author = "Liran Horev and Wollina, {Dr Uwe} and Tamara Potikha and Ariela Hafner and Arieh Ingber and Lu Liu and McGrath, {John A} and Abraham Zlotogorski",
year = "2009",
doi = "10.2340/00015555-0673",
language = "English",
volume = "89",
pages = "528--529",
journal = "Acta Dermato-Venereologica",
issn = "0001-5555",
publisher = "Society for the Publication of Acta Dermato-Venereologica",
number = "5",
}