Ontology highlight
ABSTRACT:
SUBMITTER: Sankaran VG
PROVIDER: S-EPMC3386831 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Sankaran Vijay G VG Ghazvinian Roxanne R Do Ron R Thiru Prathapan P Vergilio Jo-Anne JA Beggs Alan H AH Sieff Colin A CA Orkin Stuart H SH Nathan David G DG Lander Eric S ES Gazda Hanna T HT
The Journal of clinical investigation 20120618 7
Diamond-Blackfan anemia (DBA) is a hypoplastic anemia characterized by impaired production of red blood cells, with approximately half of all cases attributed to ribosomal protein gene mutations. We performed exome sequencing on two siblings who had no known pathogenic mutations for DBA and identified a mutation in the gene encoding the hematopoietic transcription factor GATA1. This mutation, which occurred at a splice site of the GATA1 gene, impaired production of the full-length form of the pr ...[more]