Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Nat Genet. 2011 Jul 17;43(8):735-7. doi: 10.1038/ng.885.

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.

Author information

  • 1Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK. caa@sanger.ac.uk

Abstract

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 abrogated thrombocyte formation.

PMID:
21765411
[PubMed - indexed for MEDLINE]
PMCID:
PMC3428934
Free PMC Article

Images from this publication.See all images (1)Free text

Figure 1
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for Nature Publishing Group Icon for PubMed Central
    Loading ...
    Write to the Help Desk