Screening and biochemical characterization of transthyretin variants in the Portuguese population

Human Mutation

Volumn 9, Issue 3, 1997, Pages 226-233

  Alves, Isabel L ^a,b   Altland, Klaus ^c   Almeida, Maria Rosário ^a,b   Winter, Pia ^c   Saraiva, Maria João M ^a,b  

^a HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c JUSTUS LIEBIG UNIVERSITY   (Germany)

Author keywords

amyloid; hyperthyroxinemia; isoelectric focusing; transthyretin

Indexed keywords

MUTANT PROTEIN; PREALBUMIN;

AMINO ACID SUBSTITUTION; AMYLOIDOSIS; ARTICLE; DNA SEQUENCE; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; ISOELECTRIC FOCUSING; MAJOR CLINICAL STUDY; POPULATION RESEARCH; PORTUGAL; PRIORITY JOURNAL;

AMYLOIDOSIS; FEMALE; GENETIC SCREENING; HETEROZYGOTE; HUMANS; HYPERTHYROXINEMIA; ISOELECTRIC FOCUSING; MALE; MUTATION; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PORTUGAL; PREALBUMIN; RETINOL-BINDING PROTEINS; SEQUENCE ANALYSIS, DNA; THYROID HORMONES; VARIATION (GENETICS);

EID: 0030992434     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:3<226::AID-HUMU3>3.0.CO;2-5     Document Type: Article

References (4)

1. Altland K, Rauh S, Hackler R (1981) Demonstration of human prealbumin by double one-dimensional slab gel electrophoresis. Electrophoresis 2:148-155.
2. Altland K, Becher P, Banzhoff A (1987) Paraffin oil protected high resolution hybrid isoelectric focusing for the demonstration of substitutions of neutral amino acid in denatured proteins: The case of four human transthyretin (prealbumin) variants associated with familial amyloidotic polyneuropathy. Electrophoresis 8:293-297.
3. Almeida MR, Altland K, Rauh S, Gawinowicz M, Moreira P, Costa PP, Saraiva MJM (1991a) Characterization of a basic transthyretin variant -TTR Arg 102- in the German population. Biochem Biophysic Acta 1097:224-226.
4. Jacobson DR (1992) A specific test for transthyretin 122 (Val-Ile), based on PCR-primer-introduced restriction analysis (PCR-PIRA): Confirmation of the gene frequency in blacks. Am J Hum Genet 50:195-198.