Ontology highlight
ABSTRACT:
SUBMITTER: Albers CA
PROVIDER: S-EPMC3428934 | biostudies-literature | 2011 Jul
REPOSITORIES: biostudies-literature
Albers Cornelis A CA Cvejic Ana A Favier Rémi R Bouwmans Evelien E EE Alessi Marie-Christine MC Bertone Paul P Jordan Gregory G Kettleborough Ross N W RN Kiddle Graham G Kostadima Myrto M Read Randy J RJ Sipos Botond B Sivapalaratnam Suthesh S Smethurst Peter A PA Stephens Jonathan J Voss Katrin K Nurden Alan A Rendon Augusto A Nurden Paquita P Ouwehand Willem H WH
Nature genetics 20110717 8
Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder that is characterized by mild thrombocytopenia with large platelets and a paucity of α-granules; these abnormalities cause mostly moderate but in rare cases severe bleeding. We sequenced the exomes of four unrelated individuals and identified NBEAL2 as the causative gene; it has no previously known function but is a member of a gene family that is involved in granule development. Silencing of nbeal2 in zebrafish abrogate ...[more]