Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyl...
Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis
About this item
Full title
Author / Creator
Publisher
Cheshire: Springer Healthcare
Journal title
Language
English
Formats
Publication information
Publisher
Cheshire: Springer Healthcare
Subjects
More information
Scope and Contents
Contents
Introduction
Hereditary transthyretin amyloidosis (ATTRv [variant]) is a clinically heterogeneous, progressively debilitating, fatal disease resulting from the deposition of insoluble amyloid fibrils in various organs and tissues. Early diagnosis of ATTRv can be facilitated with genetic testing; however, such testing of the
TTR
gene identi...
Alternative Titles
Full title
Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9588125
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9588125
Other Identifiers
ISSN
2193-8253
E-ISSN
2193-6536
DOI
10.1007/s40120-022-00385-1
