Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome.
Australian Centre for Blood Diseases, Monash University, Melbourne, Australia. jianlin.qiao@gmail.com.|Present Address: Department of Hematology, The Affiliated Hospital of Xuzhou Medical College, 99, West Huaihai Rd, Xuzhou, 221002, China. jianlin.qiao@gmail.com.
Jianlin
J
Qiao
Department of Haematology, The Alfred, Melbourne, Australia.
Amanda K
AK
Davis
The Kolling Institute of Medical Research, University of Sydney, Sydney, Australia.
Marie-Christine
MC
Morel-Kopp
The Kolling Institute of Medical Research, University of Sydney, Sydney, Australia.
Christopher M
CM
Ward
Australian Centre for Blood Diseases, Monash University, Melbourne, Australia.
Elizabeth E
EE
Gardiner
Australian Centre for Blood Diseases, Monash University, Melbourne, Australia.
Robert K
RK
Andrews
D001606:Bernard-Soulier Syndrome / Q000097:blood / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics*; D060245:Tetraspanin 29 / Q000097:blood*
D019038:Platelet Glycoprotein GPIb-IX Complex; D060245:Tetraspanin 29