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Article

Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia.

European journal of human genetics : EJHG - 1 Feb 2015

Pan Li-Li, Huang Yuan-mao, Wang Min, Zhuang Xiao-e, Luo Dong-feng, Guo Shi-cheng, Zhang Zhi-shun, Huang Qing, Lin Sheng-long, Wang Shao-yuan

Abstract excerpt

An inherited predisposition to acute myeloid leukaemia (AML) is exceedingly rare, but the investigation of these families will aid in the delineation of the underlying mechanisms of the more common, sporadic cases. Three AML predisposition genes, RUNX1, CEBPA and GATA2, have been recognised, but the culprit genes in the majority of AML pedigrees remain obscure. We applied a combined strategy of linkage analysis...

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Source

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Identifiers

PMID: 24755948
DOI: 10.1038/ejhg.2014.67
PMCID: PMC4297898

Genes

TGM6
GATA2
RUNX1

Variants

Provenance

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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