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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Bibliographic Details
Main Author: Norgren, Nina
Format: Doctoral Thesis
Language:English
Published: Umeå universitet, Medicin 2014
Subjects:
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