Germline DNMT3A mutation in mother-son pair with AML

Study ID Alternative Stable ID Type
EGAS00001002940 Other

Study Description

A mother/son pair with adult onset diploid AML were evaluated and found to have a dominant negative germline mutation in DNMT3A that is associated with global hypomethylation

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Longitudinal and germline exome sequencing analysis of a mother and son pair who both developed adult-onset diploid AML identified a novel germline missense mutation DNMT3A p.P709S.
Illumina HiSeq 2000 9

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