Article
Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.
Platelets - 1 Dec 2018
Rabbolini David J, Chun Yenna, Latimer Maya, Kunishima Shinji, Fixter Kathleen, Valecha Bhavia, Tan Peter, Chew Lee Ping, Kile Benjamin T, Burt Rachel, Radhakrishnan Kottayam, Bird Robert, Ockelford Paul, Gabrielli Sara, Chen Qiang, Stevenson William S, Ward Christopher M, Morel-Kopp Marie-Christine
Abstract excerpt
MYH9-related disorders (MYH9-RDs) caused by mutation of the MYH9 gene which encodes non-muscle myosin heavy-chain-IIA (NMMHC-IIA), an important motor protein in hemopoietic cells, are the most commonly encountered cause of inherited macrothrombocytopenia. Despite distinguishing features including an autosomal dominant mode of inheritance, giant platelets on the peripheral blood film accompanied by leucocytes with...
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