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Article

Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122).

The Journal of laboratory and clinical medicine - 1 Mar 1991

Nichols W C, Liepnieks J J, Snyder E L, Benson M D

Abstract excerpt

Senile cardiac amyloidosis, also known as senile systemic amyloidosis, is a sporadic disease of late onset but with increasing incidence with age. Recently it has been shown in one case that amyloid deposits contained a transthyretin variant with an isoleucine for valine substitution at position 122. A second case with the transthyretin isoleucine 122 variant is reported here. This individual, who died with...

Topics

Aged
Amyloid
Amyloidosis
Base Sequence
Cardiomyopathies
Chromatography, High Pressure Liquid
DNA
Genetic Variation
Heterozygote
Humans
Isoleucine
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Polymerase Chain Reaction

Prealbumin

Source

Identifiers

PMID: 2002274

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2002274-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122).PMID 2002274Read ↗

Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant.Semantic proximity Read ↗

Transthyretin Ile 122 and cardiac amyloidosis in African-Americans. 2 case reports.Semantic proximity Read ↗

Variant-Sequence Transthyretin (Isoleucine 122) in Late-Onset Cardiac Amyloidosis in Black AmericansSemantic proximity Read ↗

Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man.Semantic proximity Read ↗

Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey).Semantic proximity Read ↗

Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans.Semantic proximity Read ↗

Revised transthyretin Ile 122 allele frequency in African-Americans.Semantic proximity Read ↗

Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.Semantic proximity Read ↗

Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population.Semantic proximity Read ↗

Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis.Semantic proximity Read ↗

Aged vervet monkeys developing transthyretin amyloidosis with the human disease-causing Ile122 allele: a valid pathological model of the human disease.Semantic proximity Read ↗

Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans.Semantic proximity Read ↗

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