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Article

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

Nature genetics - 1 Oct 1999

Song W J, Sullivan M G, Legare R D, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende I C, Haworth C, Hock R, Loh M, Felix C, Roy D C, Busque L, Kurnit D, Willman C, Gewirtz A M, Speck N A, Bushweller J H, Li F P, Gardiner K, Poncz M, Maris J M, Gilliland D G

Abstract excerpt

Familial platelet disorder with predisposition to acute myelogenous leukaemia (FPD/AML, MIM 601399) is an autosomal dominant disorder characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukaemia (AML). Informative recombination events in 6 FPD/AML pedigrees with evidence of linkage to markers on chromosome 21q identified an 880-kb interval containing the...

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Share to Blood Platelets
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Core Binding Factor Alpha 2 Subunit

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Share to Leukemia, Myeloid, Acute

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Identifiers

PMID: 10508512
DOI: 10.1038/13793

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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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