title: A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family.
authors.affiliation: Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan.
authors.forename: M
authors.initials: M
authors.lastname: Nasir
authors.forename: A
authors.initials: A
authors.lastname: Latif
authors.forename: M
authors.initials: M
authors.lastname: Ajmal
authors.forename: M
authors.initials: M
authors.lastname: Ismail
authors.forename: A
authors.initials: A
authors.lastname: Hameed
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics*; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional / Q000235:genetics*; D010154:Pakistan
chemical_list: C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins