Associated Papers
Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis.
Xu M et al.
Clinical, Cosmetic and Investigational Dermatology, 2023
A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report.
Ghazawi FM et al.
Sage Open Medical Case Reports, 2019
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human Genetics, 2018
Lipoid proteinosis: A clinical and molecular study in Egyptian patients.
Afifi HH et al.
Gene, 2017
Translational neuroscience of basolateral amygdala lesions: Studies of Urbach-Wiethe disease.
Koen N et al.
Journal of Neuroscience Research, 2016
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
Rey LK et al.
Molecular Syndromology, 2016
Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis.
Nasir M et al.
Molecular Biology Reports, 2014
N-Glycosylation of extracellular matrix protein 1 (ECM1) regulates its secretion, which is unrelated to lipoid proteinosis.
Uematsu S et al.
Febs Open Bio, 2014
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
A Chinese family with lipoid proteinosis resulting from a homozygous missense mutation in the extracellular matrix protein 1 gene.
Wang XP et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2009
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.
Chan I et al.
Experimental Dermatology, 2007
A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis.
Horev L et al.
Experimental Dermatology, 2005
Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa.
Van Hougenhouck-Tulleken W et al.
The British 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