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September 1, 1988Blood

Residual amounts of glycoprotein Ib concomitant with near-absence of glycoprotein IX in platelets of Bernard-Soulier patients

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Population

16 individuals from two unrelated families with Bernard-Soulier syndrome (8 homozygotes and 8 heterozygotes)

Design

Other

Authors

JDJeanne DrouinUniversity of OttawaJMJL McGregorInsermSPS ParmentierUniversité Claude Bernard Lyon 1

Discussion

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Overview

Supports Bernard-Soulier heterogeneity beyond gene deletions; leaves open specific mutation identification in clinical cases.

Structured PICO

P
Population
16 individuals from two unrelated families with Bernard-Soulier syndrome (8 homozygotes and 8 heterozygotes)
O
Outcome
Levels of platelet membrane glycoprotein (GP) Ib, GPIb beta, and GPIX measured by immunoblot assaysurrogate

Bernard-Soulier syndrome is heterogeneous and likely not caused by gene deletions, as evidenced by residual glycoprotein Ib and near-absence of GPIX in patient platelets.

Cite This Study

Drouin et al. (1988) studied this question.

synapsesocial.com/papers/6a911e21d2f2d69b3a7464f6https://doi.org/10.1182/blood.v72.3.1086.bloodjournal7231086
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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 · 16 citations
  2. 2Additional glycoprotein defects in Bernard-Soulier's syndrome: confirmation of genetic basis by parental analysis1983 · 180 citations
  3. 3Bernard-Soulier Syndrome: Diagnosis by an ELISA Method Using Monoclonal Antibodies in 2 New Unrelated Patients2009 · 15 citations
  4. 4Molecular defect in platelets from patients with bernard-soulier syndrome1977 · 3 citations
  5. 5Phospholipase C activity in platelets from Bernard-Soulier syndrome patients.1993 · 4 citations