Danon Disease Due to a Novel LAMP2 Microduplication

Danon disease is a rare X-linked disorder comprising hypertrophic cardiomyopathy, skeletal myopathy, intellectual disability, and retinopathy; mutations of the lysosome-associated membrane protein gene LAMP2 are responsible. Most affected persons exhibit “private” point mutations; small locus rearra...

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Autores principales: Lines, Matthew A., Hewson, Stacy, Halliday, William, Sabatini, Peter J. B., Stockley, Tracy, Dipchand, Anne I., Bowdin, Sarah, Siriwardena, Komudi
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Berlin Heidelberg 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4213339/
https://ncbi.nlm.nih.gov/pubmed/24222494
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_277
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