Proulle, Valerie

A novel missense mutation in a leucine-rich repeat of GPIbα in a Bernard-Soulier variant reduces shear-dependent adherence on von Willebrand factor. [electronic resource] - British journal of haematology 09 2019 - e184-e187 p. digital

Publication Type: Case Reports; Letter

1365-2141

10.1111/bjh.16068 doi


Bernard-Soulier Syndrome--genetics
Child, Preschool
Humans
Male
Mutation, Missense
Platelet Adhesiveness--genetics
Platelet Glycoprotein GPIb-IX Complex--genetics
Repetitive Sequences, Amino Acid
von Willebrand Factor--genetics