Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-re...
Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease
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Publisher
United States: National Academy of Sciences
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Language
English
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United States: National Academy of Sciences
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Contents
Transthyretin (TTR) is a globular tetrameric transport protein in plasma. Nearly 140 single amino acid substitutions in TTR cause life-threatening amyloid disease. We report a one-of-a-kind pathological variant featuring a Glu51, Ser52 duplication mutation (Glu51_Ser52dup). The proband, heterozygous for the mutation, exhibited an unusually aggressi...
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Full title
Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6048550
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6048550
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ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1802977115
