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TRANSTHYRETIN LEU-68 IN A FORM OF CARDIAC AMYLOIDOSIS

Title
TRANSTHYRETIN LEU-68 IN A FORM OF CARDIAC AMYLOIDOSIS
Type
Article in International Scientific Journal
Year
1991
Authors
ALMEIDA, MR
(Author)
ICBAS
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HESSE, A
(Author)
Other
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STEINMETZ, A
(Author)
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MAISCH, B
(Author)
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ALTLAND, K
(Author)
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LINKE, RP
(Author)
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GAWINOWICZ, MA
(Author)
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SARAIVA, MJM
(Author)
ICBAS
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Journal
Vol. 86
Pages: 567-571
ISSN: 0300-8428
Publisher: Springer Nature
Scientific classification
FOS: Medical and Health sciences > Clinical medicine
Other information
Authenticus ID: P-001-QBC
Abstract (EN): A form of transthyretin (TTR)-related cardiac amyloidosis was previously described in a German patient. Electrophoretic analysis of plasma TTR showed the presence of an electrically neutral variant. We have now characterized the variant transthyretin by comparative peptide mapping, aminoacid and DNA sequencing procedures. A new mutation in TTR with a substitution of leucine for isoleucine at position 68 of the monomer is described.
Language: English
Type (Professor's evaluation): Scientific
No. of pages: 5
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