Transthyretin Ser 6 gene frequency in individuals without amyloidosis

Human Genetics

Volumn 95, Issue 3, 1995, Pages 308-312

  Jacobson, Daniel R ^a   Alves, Isabel L ^b   Saraiva, Maria João ^b   Thibodeau, Stephen N ^c   Buxbaum, Joel N ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PORTO   (Portugal)

^c MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DINUCLEOTIDE; PREALBUMIN;

AMYLOIDOSIS; ARTICLE; CAUCASIAN; CODON; DNA POLYMORPHISM; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUMAN EXPERIMENT; NEGRO; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RACE DIFFERENCE;

AMYLOIDOSIS; CAUCASOID RACE; FOUNDER EFFECT; GENE FREQUENCY; GLYCINE; HUMAN; POINT MUTATION; POLYMORPHISM (GENETICS); PREALBUMIN; SERINE; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, NON-P.H.S.; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0028910933     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/BF00225199     Document Type: Article

References (34)

1. Thyroxine-binding prealbumin gene polymorphism: a population study
2. Prenatal diagnosis of familial amyloidotic poly neuropathy: evidence for an early expression of the associated transthyretin methionine 30
3. Characterization of a basic transthyretin variant — TTR Arg 102 — in the German population
4. Screening of TTR variants in the Portuguese population by HIEF (abstract)
5. Thyroxine binding in a TTR Met 119 kindred
6. Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 Å
7. Caucasian genes in American blacks: new data
8. Familial amyloidosis: hereditary systemic disease of the connective tissue and other organs
9. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions
10. Thyroxine binding by human transthyretin variants: mutations at position 119, but not position 54, increase thyroxine binding affinity
11. An inherited non-amyloidogenic transthyretin variant, [Ser6]-TTR, with increased thyroxine-binding affinity, characterized by DNA sequencing
12. Amyloidotic polyneuropathy in a Jewish family: evidence for the genetic heterogeneity of the lower limb familial amyloidotic neuropathies
13. Biochemial and clinical characterization of prealbuminChicago: an apparently benign variant of serum prealbumin (transthyretin) discovered with high-resolution two-dimensional electrophoresis
14. Homozygosity for the transthyretin-met30gene in two Swedish sibs with familial amyloidotic polyneuropathy
15. From molecular variant to disease: initial steps in evaluating the association of transthyretin M119with disease
16. Genetic aspects of amyloidosis
17. A double variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient “SKO” with familal amyloidotic polyneuropathy
18. A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology
19. Frequency and genetic background of the position 122 (Val→Ile) transthyretin gene in the black population
20. Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement
21. The amino acid sequence of human plasma prealbumin
22. A prealbumin variant with an increased affinity for T4 and reverse-T3
23. Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family
24. Production and functional analysis of normal and variant recombinant human transthyretin proteins
25. Isolation and reconstruction of a gene from a human cDNA library by PCR
26. Genetic markers
27. Thyroxine interactions with transthyretin: a comparison of 10 different naturally occurring human transthyretin variants
28. Cardiac amyloidosis: reort of a patient heterozygous for the transthyretin-isoleucine 122 variant
29. Molecular analyses of an acidic transthyretin Asn 90 variant
30. Transthyretin and familial amyloidotic polyneuropathy
31. A novel variant of transthyretin (prealbumin), Thr119 to Met, associated with increased thyroxine binding
32. Identification and characterization of a human transthyretin variant
33. Haplotype analysis of familial amyloidotic polyneuropathy: evidence for multiple origins of the Val-Met mutation most common to the disease