Germline DNMT3A mutation in mother-son pair with AML - EGA European Genome-Phenome Archive

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. 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?

Publications

Citations

Retrieving...