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A Drastic Reduction in the Life Span of Cystatin C L68Q Carriers Due to Life-Style Changes during the Last Two Centuries

Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disease with high penetrance, manifest by brain hemorrhages in young normotensive adults. In Iceland, this condition is caused by the L68Q mutation in the cystatin C gene, with contemporary carriers reaching an average age of...

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Hlavní autoři: Palsdottir, Astridur, Helgason, Agnar, Palsson, Snaebjorn, Bjornsson, Hans Tomas, Bragason, Birkir Thor, Gretarsdottir, Solveig, Thorsteinsdottir, Unnur, Olafsson, Elias, Stefansson, Kari
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2409978/
https://ncbi.nlm.nih.gov/pubmed/18566660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1000099
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