No abstract available
MeSH terms
-
Adult
-
Blood Platelets / metabolism*
-
Blood Platelets / ultrastructure
-
Core Binding Factor Alpha 2 Subunit / genetics*
-
Exome Sequencing
-
Female
-
Haploinsufficiency
-
Humans
-
Immunophenotyping
-
Mutation*
-
Nonsense Mediated mRNA Decay
-
Pedigree
-
Phenotype*
-
RNA Splicing
-
Symptom Assessment
-
Thrombocytopenia / blood
-
Thrombocytopenia / diagnosis
-
Thrombocytopenia / genetics*
-
Thrombocytopenia / metabolism*
Substances
-
Core Binding Factor Alpha 2 Subunit
-
RUNX1 protein, human