Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts-Reference-Cited by-同舟云学术

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Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts

Published:2018-10 Issue: Volume:41 Page:61-63
ISSN:0890-8508
Container-title:Molecular and Cellular Probes
language:en
Short-container-title:Molecular and Cellular Probes

Author:

Jahic Amir,Bock Andrea,Duca Franz,Bonderman Diana,Mascherbauer Julia,Windhager Reinhard,Auer-Grumbach Michaela,Beetz Christian

Funder

Interdisziplinäres Zentrum für Klinische Forschung Jena

Tom-Wahlig-Stiftung

Austrian Science Fond FWF

Oesterreichische Nationalbank

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology

Reference21 articles.

1. The systemic amyloidoses;Falk;N. Engl. J. Med.,1997

2. The genetics of the amyloidoses;Buxbaum;Annu. Rev. Med.,2000

3. Tabulation of human transthyretin (TTR) variants, 2003;Connors;Amyloid,2003

4. THAOS - the Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis;Coelho;Curr. Med. Res. Opin.,2013

5. TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?;Bonaiti;Eur. J. Hum. Genet.,2010

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