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

التفاصيل البيبلوغرافية
العنوان: A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient
المؤلفون: L H, Connors, R, Théberge, J, Skare, C E, Costello, R H, Falk, M, Skinner
المصدر: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 6(2)
سنة النشر: 1999
مصطلحات موضوعية: Adult, Male, Portugal, Amyloidosis, Amino Acid Substitution, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Serine, Humans, Prealbumin, Asparagine, Isoelectric Focusing, Immunoelectrophoresis, Chromatography, High Pressure Liquid, Polymorphism, Restriction Fragment Length
الوصف: 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.
تدمد: 1350-6129
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::699e260cbf130c3f6b588178f0259aba
https://pubmed.ncbi.nlm.nih.gov/10439117
رقم الأكسشن: edsair.pmid..........699e260cbf130c3f6b588178f0259aba
قاعدة البيانات: OpenAIRE
الوصف
تدمد:13506129