A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities

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 an...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9676191/
https://www.ncbi.nlm.nih.gov/pubmed/36404341
http://dx.doi.org/10.1038/s41598-022-24098-5

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