Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
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
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.
Chan I et al.
Experimental Dermatology, 2007
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
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