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October 1, 1983Blood

Additional glycoprotein defects in Bernard-Soulier's syndrome: confirmation of genetic basis by parental analysis

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Population

3 patients with Bernard-Soulier's syndrome (two siblings, one unrelated) and the siblings' parents

Comparison

Platelet glycoprotein profiling using periodate… vs Normal platelets

Design

Other

Authors

MBMC BerndtSouth Australia PathologyCGC GregoryBCBH ChongPrince of Wales Hospital

Discussion

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Overview

Suggests a GPIb-centered membrane complex; leaves open the precise genetic basis of Bernard-Soulier syndrome.

Structured PICO

P
Population
3 patients with Bernard-Soulier's syndrome (two siblings, one unrelated) and the siblings' parents
I
Intervention
Platelet glycoprotein profiling using periodate 3H-sodium borohydride labeling and SDS-polyacrylamide gel electrophoresis
C
Comparator
Normal platelets
O
Outcome
Platelet glycoprotein profile (presence/absence of GPIb, GPV, GPIX, and GP 100)surrogate

The apparent genetic absence of multiple proteins in Bernard-Soulier platelets is likely due to the lack of a tight membrane complex between glycoprotein Ib and other glycoproteins.

Cite This Study

Berndt et al. (1983) studied this question.

synapsesocial.com/papers/6a911df901e1e58c2c70f5dfhttps://doi.org/10.1182/blood.v62.4.800.bloodjournal624800
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Additional glycoprotein defects in Bernard-Soulier's syndrome: confirmation of genetic basis by parental analysis1983 · 180 citations
  2. 2Residual amounts of glycoprotein Ib concomitant with near-absence of glycoprotein IX in platelets of Bernard-Soulier patients1988 · 29 citations
  3. 3Molecular defect in platelets from patients with bernard-soulier syndrome1977 · 3 citations
  4. 4Bernard-Soulier Syndrome: Diagnosis by an ELISA Method Using Monoclonal Antibodies in 2 New Unrelated Patients2009 · 15 citations
  5. 5Defective adhesion of blood platelets to vascular microfibrils in the Bernard-Soulier syndrome1993 · 8 citations