Article
A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities.
Scientific reports - 20 Nov 2022
Safiullina Svetlana I, Evtugina Natalia G, Andrianova Izabella A, Khismatullin Rafael R, Kravtsova Olga A, Khabirova Alina I, Nagaswami Chandrasekaran, Daminova Amina G, Peshkova Alina D, Litvinov Rustem I, Weisel John W
Abstract excerpt
Mutations in the MYH9 gene result in macrothrombocytopenia often associated with hemorrhages. Here, we studied the function and structure of platelets in three family members with a heterozygous mutation R1933X in the MYH9 gene, characteristic of closely related disorders known as the May-Hegglin anomaly and Sebastian syndrome. The examination included complete blood count, blood smear microscopy, platelet flow...
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