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Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein Ibβ mutation.

AuthorsTetsuji Sato, Shinji Kunishima, Rie Shirayama, Shun Ichikawa, Michio Sakai, Koichi Kusuhara
JournalActa haematologica (Acta Haematol) Vol. 131 Issue 1 Pg. 46-9 ( 2014) ISSN: 1421-9662 [Electronic] Switzerland
PMID24051937 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Platelet Glycoprotein GPIb-IX Complex
Topics
  • Bernard-Soulier Syndrome (genetics)
  • Blood Platelets (immunology)
  • Female
  • Heterozygote
  • Humans
  • Mutation
  • Platelet Glycoprotein GPIb-IX Complex (genetics)

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