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Article

Novel genetic abnormalities in Bernard-Soulier syndrome in India.

Annals of hematology - 1 Mar 2014

Ali Shahnaz, Ghosh Kanjaksha, Shetty Shrimati

Abstract excerpt

Bernard-Soulier syndrome (BSS) is a severe inherited bleeding disorder due to defects in GPIb/IX/V, a platelet receptor that normally functions as a platelet membrane receptor for von Willebrand factor, thrombin and factor XI. BSS results from mutations in GP1BA, GP1BB or GP9 genes. In 15 patients with Bernard-Soulier syndrome from Western India, we amplified the entire coding sequences of GP1BA, GP1BB and GP9...

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PMID: 23995613
DOI: 10.1007/s00277-013-1895-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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