The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
Open accessAbstract
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.
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Metadata
- Authors
- Albers, C. A., Cvejic, A., Favier, R., Bouwmans, E. E., Alessi, M.-C., Bertone, P., Jordan, G., Kettleborough, R. N. W., Kiddle, G., Kostadima, M., Read, R. J., Sipos, B., Sivapalaratnam, S., Smethurst, P. A., Stephens, J., Voss, K., Nurden, A., Rendon, A., Nurden, P., & Ouwehand, W. H.
- Venue
- Nature Genetics
- Published
- 2011-07-17
- Volume
- 43
- Issue
- 8
- Pages
- 735-737
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2167045574
- Cited by
- 285
- References
- 25
- FWCI
- 18.86
- Type
- journal article
- Language
- en
- Open access
- green
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