Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
Rey LK et al.
Molecular Syndromology, 2016
A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient.
Izadi F et al.
Genetics and Molecular Research : Gmr, 2012
Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.
Nasir M et al.
Diagnostic Pathology, 2011
Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.
Horev L et al.
Acta Dermato-venereologica, 2009
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.
Chan I et al.
Experimental Dermatology, 2007
Lipoid proteinosis: case report and review of the literature.
Di Giandomenico S et al.
Acta Otorhinolaryngologica Italica : Organo Ufficiale Della Societa Italiana Di Otorinolaringologia E Chirurgia Cervico-facciale, 2006
Molecular basis of lipoid proteinosis in two Indian siblings.
Chan I et al.
The Journal of Dermatology, 2004
Molecular basis of lipoid proteinosis in a Libyan family.
Chan I et al.
Clinical and Experimental Dermatology, 2003
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
Hamada T et al.
The Journal of Investigative Dermatology, 2003
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Hamada T et al.
Human Molecular Genetics, 2002
Clinical and molecular abnormalities in lipoid proteinosis.
Desmet S et al.
European Journal of Dermatology : Ejd, 0