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Browsing by Author "Palsdottir, Astridur"

Browsing by Author "Palsdottir, Astridur"

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  • March, Michael E.; Gutierrez-Uzquiza, Alvaro; Snorradottir, Asbjorg Osk; Matsuoka, Leticia S.; Balvis, Noelia Fonseca; Gestsson, Thorgeir; Nguyen, Kenny; Sleiman, Patrick M.A.; Kao, Charlly; Ísaksson, Helgi Jóhannes; Bragason, Birkir Thor; Ólafsson, Elías; Palsdottir, Astridur; Hakonarson, Hakon (2021-03-23)
    Hereditary cystatin C amyloid angiopathy is a dominantly inherited disease caused by a leucine to glutamine variant of human cystatin C (hCC). L68Q-hCC forms amyloid deposits in brain arteries associated with micro-infarcts, leading ultimately to ...
  • Palsdottir, Astridur; Snorradóttir, Ásbjörg Ósk; Hakonarson, Hakon (2022-12-07)
    Ágrip Arfgeng heilablæðing (hereditary cystatin C amyloid angiopathy, HCCAA) er ríkjandi erfðasjúkdómur sem stafar af stökkbreytingu í cystatin C-geninu, CST3. Stökkbreytt cystatin C safnast upp í smáslagæðum heilans sem mýlildi og veldur síendurteknum ...