Ontology highlight
ABSTRACT:
SUBMITTER: Huang L
PROVIDER: S-EPMC3484651 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
American journal of human genetics 20120920 4
The discovery of mutations causing human disease has so far been biased toward protein-coding regions. Having excluded all annotated coding regions, we performed targeted massively parallel resequencing of the nonrepetitive genomic linkage interval at Xq28 of family MRX3. We identified in the binding site of transcription factor YY1 a regulatory mutation that leads to overexpression of the chromatin-associated transcriptional regulator HCFC1. When tested on embryonic murine neural stem cells and ...[more]