TY  - GEN
AU  - Proulle,Valerie
AU  - Strassel,Catherine
AU  - Perrault,Christelle
AU  - Baas,Marie-Jeanne
AU  - Moog,Sylvie
AU  - Mangin,Pierre
AU  - Nurden,Paquita
AU  - Nurden,Alan
AU  - Adam,Frederic
AU  - Bryckaert,Marijke
AU  - Kauskot,Alexandre
AU  - Li,Renhao
AU  - Lanza,Francois
TI  - A novel missense mutation in a leucine-rich repeat of GPIbα in a Bernard-Soulier variant reduces shear-dependent adherence on von Willebrand factor
SN  - 1365-2141
PY  - 2020///0601
KW  - Bernard-Soulier Syndrome
KW  - genetics
KW  - Child, Preschool
KW  - Humans
KW  - Male
KW  - Mutation, Missense
KW  - Platelet Adhesiveness
KW  - Platelet Glycoprotein GPIb-IX Complex
KW  - Repetitive Sequences, Amino Acid
KW  - von Willebrand Factor
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1111/bjh.16068
ER  -