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Article

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

American journal of human genetics - 1 Jul 1991

Jacobson D R, Reveille J D, Buxbaum J N

Abstract excerpt

Transthyretin (TTR) (122 Val----Ile), caused by a point mutation which destroys a MaeIII restriction site, is associated with cardiac amyloidosis in black individuals. To estimate the frequency of the MaeIII(-) gene in the black population without overt cardiac disease, DNA from 177 black individuals without amyloidosis was amplified by the PCR around TTR codon 122 and was digested with MaeIII. The MaeIII(-) gene...

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Source

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Identifiers

PMID: 2063870
PMCID: PMC1683217

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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