Associated Papers
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 › Small_deletions-36_mutations
New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation.
Sivitskaya L et al.
Folia Medica, 2022
Danon disease: a case report and literature review.
Xu J et al.
Diagnostic Pathology, 2021
Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.
Majer F et al.
Gene, 2012
Select a paper to view details