[HTML][HTML] Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibβ promoter resulting in the Bernard-Soulier syndrome
LB Ludlow, BP Schick, ML Budarf, DA Driscoll… - Journal of Biological …, 1996 - ASBMB
Bernard-Soulier Syndrome (BSS) is a rare congenital bleeding disorder due to absent or
decreased expression of the glycoprotein Ib-IX-V (GpIb-IX-V) receptor complex on the
platelet surface. To date, only mutations in GpIbα or GpIX have been reported in patients
with BSS. GpIbβ differs from the other proteins in this receptor in that the gene is more
complex, and an alternative form is expressed in cells of non-megakaryocytic lineage,
including endothelial cells. It appears that the megakaryocytic and endothelial cell mRNA …
decreased expression of the glycoprotein Ib-IX-V (GpIb-IX-V) receptor complex on the
platelet surface. To date, only mutations in GpIbα or GpIX have been reported in patients
with BSS. GpIbβ differs from the other proteins in this receptor in that the gene is more
complex, and an alternative form is expressed in cells of non-megakaryocytic lineage,
including endothelial cells. It appears that the megakaryocytic and endothelial cell mRNA …