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Article

Frequency of recent retrotransposition events in the human factor IX gene.

Human mutation - 1 Jun 2001

Li X, Scaringe W A, Hill K A, Roberts S, Mengos A, Careri D, Pinto M T, Kasper C K, Sommer S S

Abstract excerpt

Two germline retrotransposition mutations of recent origin were observed in 727 independent mutations (0.28%) in the human factor IX gene (F9) of patients with hemophilia B: 1) a 279 bp insertion in exon H originating from an Alu family of short interspersed elements not previously known to be ac...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11385709
DOI: 10.1002/humu.1134

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11385709-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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