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Article

Genotyping of the c.1423C>T (p.P475S) polymorphism in the ADAMTS13 gene by APLP and HRM assays: Northeastern Asian origin of the mutant.

Legal medicine (Tokyo, Japan) - 1 Jul 2016

Nakagawa Mayumi, Matsusue Aya, Umetsu Kazuo, Iino Morio, Ishikawa Takaki, Yuasa Isao

Abstract excerpt

ADAMTS13 is a von Willebrand factor-cleaving protease. The mutant types of p.P475S (c.1423C>T) polymorphism in ADAMTS13 have a reduced activity in comparison with the wild type. In the present study, we investigated the frequency of the C-to-T substitution in 2584 genomic DNA samples from 25 Asian, European, and African populations using APLP (amplified product length polymorphism) and/or HRM (high-resolution...

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Source

Identifiers

PMID: 27497325
DOI: 10.1016/j.legalmed.2016.04.010

Genes

ADAMTS13
ABO

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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