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

Acta Haematol. 2014;131(1):46-9. doi: 10.1159/000351057. Epub 2013 Sep 19.

Authors

Tetsuji Sato¹, Shinji Kunishima, Rie Shirayama, Shun Ichikawa, Michio Sakai, Koichi Kusuhara

Affiliation

¹ Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.

PMID: 24051937
DOI: 10.1159/000351057

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Bernard-Soulier Syndrome / genetics*
Blood Platelets / immunology
Female
Heterozygote
Humans
Mutation
Platelet Glycoprotein GPIb-IX Complex / genetics*

Substances

Platelet Glycoprotein GPIb-IX Complex