Mutations in Human Nonmuscle Myosin IIA Found in Patients with May-Hegglin Anomaly and Fechtner Syndrome Result in Impaired Enzymatic Function
Open Access
- 1 November 2002
- journal article
- Published by Elsevier
- Vol. 277 (48) , 46512-46517
- https://doi.org/10.1074/jbc.m208506200
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Identification of six novel MYH9 mutations and genotype–phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusionsJournal of Human Genetics, 2001
- Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)Blood, 2001
- Human Nonsyndromic Hereditary Deafness DFNA17 Is Due to a Mutation in Nonmuscle Myosin MYH9American Journal of Human Genetics, 2000
- Human Nonsyndromic Hereditary Deafness DFNA17 Is Due to a Mutation in Nonmuscle MyosinMYH9American Journal of Human Genetics, 2000
- Inherited Giant Platelet DisordersAmerican Journal of Clinical Pathology, 2000
- Crystal Structure of a Vertebrate Smooth Muscle Myosin Motor Domain and Its Complex with the Essential Light ChainCell, 1998
- Kinetic Characterization of Myosin Head Fragments with Long-Lived Myosin·ATP StatesBiochemistry, 1998
- Baculovirus Expression of Chicken Nonmuscle Heavy Meromyosin II-BPublished by Elsevier ,1996
- Chicken nonmuscle myosin heavy chains: differential expression of two mRNAs and evidence for two different polypeptides.The Journal of cell biology, 1991
- The cytoskeleton of the resting human blood platelet: structure of the membrane skeleton and its attachment to actin filaments.The Journal of cell biology, 1991