Amyloid. 1999 Jun;6(2):114-8.

A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.

Connors LH, Théberge R, Skare J, Costello CE, Falk RH, Skinner M.

Source

Amyloid Treatment and Research Program, Boston University School of Medicine 02118, USA. lconnors@bu.edu

Abstract

The detection and characterization of a new transthyretin (ATTR) variant, Ser23Asn, associated with cardiomyopathy in a Portuguese patient with familial amyloidosis is described. Isoelectric focusing (IEF) of serum from the propositus demonstrated heterozygosity for the presence of wild type and variant ATTR. A combination of mass spectrometric (MS) analyses, including electrospray ionization mass spectrometry (ESI MS), high performance liquid chromatography (HPLC)/ESI MS and matrix-assisted laser desorption/ionization mass spectrometry (MALDI MS) performed on the serum-derived TTR were used to identify and locate the amino acid replacement in the variant protein. Genetic mutation analysis by DNA sequencing and allele-specific PCR confirmed this finding.

PMID:: 10439117; [PubMed - indexed for MEDLINE]

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Cited by 2 PubMed Central articles

Restrictive cardiomyopathy in inherited ATTR amyloidosis (TTR-Ser23Asn) in a patient of German-Italian extraction. [BMJ Case Rep. 2010]
Restrictive cardiomyopathy in inherited ATTR amyloidosis (TTR-Ser23Asn) in a patient of German-Italian extraction.
Mueller II, Gawaz M, Linke RP, Zuern C, Steiner D, Altland K, Von Beckerath N, Weig HJ. BMJ Case Rep. 2010; 2010. Epub 2010 Mar 8.
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A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.

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