Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy
Background: Hereditary transthyretin amyloidosis is an autosomal dominant disease with a reduced penetrance. The most common mutation in Sweden is the V30M mutation in the transthyretin gene. Clustering areas of the disease can be found in Northern Sweden, Portugal, Brazil and Japan, although sporad...
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Format: | Doctoral Thesis |
Language: | English |
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Umeå universitet, Medicin
2014
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Online Access: | http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-84494 http://nbn-resolving.de/urn:isbn:978-91-7459-786-8 |