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The Swedish landscape of hereditary ATTR amyloidosis
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Medicine.
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Medicine.
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Medicine.
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Medicine.
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2017 (English)In: Amyloid: Journal of Protein Folding Disorders, ISSN 1350-6129, E-ISSN 1744-2818, Vol. 24, no 1, p. 93-94Article in journal, Meeting abstract (Refereed) Published
Abstract [en]

Northern Sweden is a well-known clustering area for hereditary transthyretin (TTR) amyloid (ATTR) amyloidosis caused by the Val30Met mutation. However, several additional mutations have been found in the Swedish population, of which many, such as the Ala45Ser, Gly57Arg and His88Arg mutations, have not been reported outside of Sweden to the best of our knowledge. We aim to give an overview of the various mutations found in the Swedish population.

Place, publisher, year, edition, pages
2017. Vol. 24, no 1, p. 93-94
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Medical Genetics
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URN: urn:nbn:se:umu:diva-134749DOI: 10.1080/13506129.2017.1286580ISI: 000399943700049PubMedID: 28434364OAI: oai:DiVA.org:umu-134749DiVA, id: diva2:1094862
Available from: 2017-05-11 Created: 2017-05-11 Last updated: 2018-06-09Bibliographically approved

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Suhr, Ole BWixner, JonasPilebro, BjörnLundgren, Hans-ErikAnan, Intissar

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