Related references
Note: Only part of the references are listed.MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
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MYH9-Related Platelet Disorders
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Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease
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JOURNAL OF MOLECULAR BIOLOGY (2007)
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Genotype-phenotype correlation in MYH9-related thrombocytopenia
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Altered cytoskeleton organization in platelets from patients with MYH9-related disease
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Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly
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BLOOD (2005)
Myosin subfragment 1 structures reveal a partially bound nucleotide and a complex salt bridge that helps couple nucleotide and actin binding
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Crystal structure of scallop myosin S1 in the pre-power stroke state to 2.6 A resolution:: Flexibility and function in the head
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Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: Association of subcellular localization with MYH9 mutations
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LABORATORY INVESTIGATION (2003)
Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function
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JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes
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AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)
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BLOOD (2001)
X-ray structures of the apo and MgATP-bound states of Dictyostelium discoideum myosin motor domain
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JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9
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AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Myosins: a diverse superfamily
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