Dataset Information
Analysis of the MAGED2 interactome
Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive
ORGANISM(S): Homo Sapiens (human)
SUBMITTER: 
Markus Rinschen
LAB HEAD: Markus Rinschen
PROVIDER: PXD003279 | Pride | 2016-05-02
REPOSITORIES: Pride
Dataset's files
Items per page: 1 - 5 of 23 |
Publications
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
The New England journal of medicine 20160427 19
<h4>Background</h4>Three pregnancies with male offspring in one family were complicated by severe polyhydramnios and prematurity. One fetus died; the other two had transient massive salt-wasting and polyuria reminiscent of antenatal Bartter's syndrome.<h4>Methods</h4>To uncover the molecular cause of this possibly X-linked disease, we performed whole-exome sequencing of DNA from two members of the index family and targeted gene analysis of other members of this family and of six additional famil ...[more]
