Associated Papers
Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.
Di Blasi C et al.
Neuromuscular Disorders : Nmd, 2008
Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
Arad M et al.
The New England Journal of Medicine, 2005
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