Transthyretin Leu 68 in a form of cardiac amyloidosis

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...

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Veröffentlicht in:	Basic research in cardiology 1991-11, Vol.86 (6), p.567-571
Hauptverfasser:	ALMEIDA, M. R, HESSE, A, STEIMETZ, A, MAISCH, B, ALTLAND, K, LINKE, R. P, GAWINOWICZ, M. A, SARAIVA, M. J. M
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Amyloidosis Amyloidosis - blood Biological and medical sciences Cardiomyopathies - blood DNA Probes - genetics Humans Male Medical sciences Metabolic diseases Middle Aged Molecular Sequence Data Mutation Other metabolic disorders Peptide Mapping Prealbumin - analysis Prealbumin - genetics
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Beschreibung
Zusammenfassung:	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.
ISSN:	0300-8428 1435-1803
DOI:	10.1007/BF02190707