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Amyloid fibril comp...
Amyloid fibril composition within hereditary Val30Met (p. Val50Met) transthyretin amyloidosis families
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- Suhr, Ole Bernt (författare)
- Umeå universitet,Avdelningen för medicin,Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden
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- Wixner, Jonas (författare)
- Umeå universitet,Avdelningen för medicin,Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden
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- Anan, Intissar (författare)
- Umeå universitet,Avdelningen för medicin,Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden
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- Lundgren, Hans-Erik (författare)
- Umeå universitet,Avdelningen för medicin,Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden
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- Wijayatunga, Priyantha, 1967- (författare)
- Umeå universitet,Statistik,Umea Univ, Dept Stat, Umea, Sweden
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- Westermark, Per (författare)
- Uppsala universitet,Klinisk och experimentell patologi,Per Westermark
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- Ihse, Elisabet, 1977- (författare)
- Uppsala universitet,Klinisk och experimentell patologi,Per Westermark
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(creator_code:org_t)
- 2019-02-27
- 2019
- Engelska.
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 14:2
- Relaterad länk:
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- BACKGROUND: The amyloid fibril in hereditary transthyretin (TTR) Val30Met (pVal50Met) amyloid (ATTR Val30Met) amyloidosis is composed of either a mixture of full-length and TTR fragments (Type A) or of only full-length TTR (Type B). The type of amyloid fibril exerts an impact on the phenotype of the disease, and on the outcome of diagnostic procedures and therapy. The aim of the present study was to investigate if the type of amyloid fibril remains the same within ATTR Val30Met amyloidosis families.METHODS: Fifteen families were identified in whom at least two first-degree relatives had their amyloid fibril composition determined. The type of ATTR was determined by Western blot in all but two patients. For these two patients a positive 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy indicated ATTR Type A.RESULTS: In 14 of the 15 families, the same amyloid fibril composition was noted irrespective of differences in age at onset. In the one family, different ATTR fibril types was found in two brothers with similar ages at onset.CONCLUSIONS: Family predisposition appears to have an impact on amyloid fibril composition in members of the family irrespective of their age at onset of disease, but if genetically determined, the gene/genes are likely to be situated at another location than the TTR gene in the genome.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Klinisk laboratoriemedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Clinical Laboratory Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinsk bioteknologi -- Medicinsk bioteknologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Medical Biotechnology -- Medical Biotechnology (hsv//eng)
Nyckelord
- Pathology
- Patologi
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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