A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family.
Nasir
M
M
Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan.
Latif
A
A
Ajmal
M
M
Ismail
M
M
Hameed
A
A
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
C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins