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Article

(ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations.

Human mutation - 1 Jan 1994

Olds R J, Lane D A, Chowdhury V, Sas G, Pabinger I, Auberger K, Thein S L

Abstract excerpt

Two (ATT) trinucleotide repeat polymorphisms have been identified in the tails of Alu repeat elements in intron 5 of the antithrombin gene. The frequency and distribution of allele sizes for the Alu 5 and Alu 8 tail polymorphisms have been defined in a sample Caucasian population. The Alu 5 polymorphism has two alleles while that of Alu 8 has 10 alleles with a heterozygosity of 0.83. These polymorphisms have been...

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PMID: 7951256
DOI: 10.1002/humu.1380040105

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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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