[HTML][HTML] Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function
A Hu, F Wang, JR Sellers - Journal of Biological Chemistry, 2002 - ASBMB
A family of autosomal-dominant diseases including May-Hegglin anomaly, Fechtner
syndrome, Sebastian syndrome, Alport syndrome, and Epstein syndrome are commonly
characterized by giant platelets and thrombocytopenia. In addition, there may be leukocyte
inclusions, deafness, cataracts, and nephritis, depending on the syndrome. Mutations in the
human nonmuscle myosin IIA heavy chain gene (MYH9) have been linked to these
diseases. Two of the recently described mutations, N93K and R702C, are conserved in …
syndrome, Sebastian syndrome, Alport syndrome, and Epstein syndrome are commonly
characterized by giant platelets and thrombocytopenia. In addition, there may be leukocyte
inclusions, deafness, cataracts, and nephritis, depending on the syndrome. Mutations in the
human nonmuscle myosin IIA heavy chain gene (MYH9) have been linked to these
diseases. Two of the recently described mutations, N93K and R702C, are conserved in …
