A founder effect is proposed for factor XIII B subunit deficiency caused by the insertion of triplet AAC in exon III encoding the second Sushi domain.

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Article

A founder effect is proposed for factor XIII B subunit deficiency caused by the insertion of triplet AAC in exon III encoding the second Sushi domain.

Thrombosis and haemostasis - 1 Aug 1998

Souri M, Izumi T, Higashi Y, Girolami A, Ichinose A

Abstract excerpt

We previously concluded that genetic defects in the B subunit of factor XIII were the basis for former Type I deficiency (i.e. factor XIII B subunit deficiency). When we examined an Italian patient with the disease at the DNA level, restriction digestion and sequencing analyses of amplified DNAs...

Topics

DNA Transposable Elements
Exons
Factor XIII Deficiency
Female
Founder Effect
Genetic Code
Genotype
Homozygote
Humans
Pedigree
Peptide Fragments
Protein Structure, Tertiary

Source

Open in PubMed

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PMID: 9716138

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9716138-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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