Study

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.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001006248
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

Who archives the data?

There are no publications available