Associated Papers
Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.
Silva SME et al.
Cardiovascular Diagnosis and Therapy, 2024
Identification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease.
Fu D et al.
Esc Heart Failure, 2023
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 › Splicing_--29_mutations
New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation.
Sivitskaya L et al.
Folia Medica, 2022
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