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Allele Specific Expression of the Transthyretin Gene in Swedish Patients with Hereditary Transthyretin Amyloidosis (ATTR V30M) Is Similar between the Two Alleles

BACKGROUND: Hereditary transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease characterized by extracellular deposits of amyloid fibrils composed of misfolded TTR. The differences in penetrance and age at onset are vast, both between and within populations, with a generally late ons...

詳細記述

保存先:
書誌詳細
主要な著者: Norgren, Nina, Hellman, Urban, Ericzon, Bo Göran, Olsson, Malin, Suhr, Ole B.
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2012
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3501482/
https://ncbi.nlm.nih.gov/pubmed/23185504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0049981
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