Associated Papers
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
Rey LK et al.
Molecular Syndromology, 2016
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
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