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
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
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2. Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease;Molecular Genetics & Genomic Medicine;2023-06-08
3. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review;International Journal of Molecular Sciences;2023-05-11
4. New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation;Folia Medica;2022-10-31
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