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Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?

In this study we clinically and genetically characterize a consanguineous family with a homozygous novel missense mutation in the δ-sarcoglycan gene and a second δ-sarcoglycan mutation that has previously been reported to cause severe autosomal-dominant dilated cardiomyopathy. We identified a novel...

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Библиографические подробности
Главные авторы: Bauer, Ralf, Hudson, Judith, Müller, Harald D, Sommer, Clemens, Dekomien, Gabriele, Bourke, John, Routledge, Daniel, Bushby, Kate, Klepper, Jörg, Straub, Volker
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2009
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986598/
https://ncbi.nlm.nih.gov/pubmed/19259135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.17
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