title: A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia.
abstract: Inherited macrothrombocytopenia is one of the subgroup of inherited thrombocytopenias with variable bleeding tendencies presenting with low platelet count and giant platelets and different gene mutations are involved in its molecular pathophysiology and affect various cell functions. Herein, we describe a family with an isolated giant platelet disorder with variable bleeding diathesis with autosomal mode of inheritance.
authors: Department of Haemostasis and Thrombosis, National Institute of Immunohaematology, 13th Floor, KEM Hospital, Parel, Mumbai, Maharashtra, India.
authors: Shahnaz
authors: S
authors: Ali
authors: Shrimati
authors: S
authors: Shetty
authors: Kanjaksha
authors: K
authors: Ghosh
mesh_terms: D000328:Adult; D001606:Bernard-Soulier Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics*
chemical_list: D019038:Platelet Glycoprotein GPIb-IX Complex