Bernard Soulier syndrome
cv_term_accession
KW-0087
canonical
uniprot_keyword
KW-0087
canonical
name
Bernard Soulier syndrome
uniprot
synonym
BSS
uniprot
definition
Protein which, if defective, causes Bernard Soulier syndrome (BSS), a familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption. BSS is caused by a genetic deficiency in platelet membrane glycoprotein Ib alpha chain and platelet glycoprotein IX, where platelets aggregate normally but do not stick to collagen of the sub- endothelial membrane.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords