Condition: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
rs121908065
in
CHRNE;GP1BA
gene and
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
PMID 11222377
2001 Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.