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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...
Autores principales: | Palsdottir, Astridur, Helgason, Agnar, Palsson, Snaebjorn, Bjornsson, Hans Tomas, Bragason, Birkir Thor, Gretarsdottir, Solveig, Thorsteinsdottir, Unnur, Olafsson, Elias, Stefansson, Kari |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2409978/ https://www.ncbi.nlm.nih.gov/pubmed/18566660 http://dx.doi.org/10.1371/journal.pgen.1000099 |
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