title: Novel human pathological mutations. Gene symbol: ECM1. Disease: Lipoid Proteinosis.
authors.affiliation: IBGE, Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. ahameed0786@yahoo.com
authors.forename: Abdul
authors.initials: A
authors.lastname: Hameed
authors.forename: Muhammmad
authors.initials: M
authors.lastname: Nasir
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ajmal
authors.forename: Latif
authors.initials: L
authors.lastname: Latif
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics*; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*
chemical_list: C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins; D009711:Nucleotides