Associated Papers
Genetic Spectrum, Clinical Characteristics, and Molecular Pathogenesis of Hypertrophic Cardiomyopathy Requiring Heart Transplantation.
Andreeva S et al.
Journal of Cardiovascular Development and Disease, 2025
A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy.
Narayan A et al.
Ophthalmic Genetics, 2024
Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.
Shalata A et al.
Genes, 2023
37628591 (PubMed )
Supplement: genes-14-01539-s001.zip › genes-2456230-supplementary › Supplementary_FIGURE_and_LAMP2_MUTATIONS_EXCEL_FILES › Table_S1-HGMD_LAMP2_gene_mutations.xlsx › Missense_nonsense-44_Mutations
Danon disease: a case report and literature review.
Xu J et al.
Diagnostic Pathology, 2021
Identification of Two Novel LAMP2 Gene Mutations in Danon Disease.
Csányi B et al.
The Canadian Journal of Cardiology, 2016
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