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Immunofluorescence Analysis of Neutrophil Nonmuscle Myosin Heavy Chain-A in MYH9 Disorders: Association of Subcellular Localization with MYH9 Mutations
The autosomal dominant macrothrombocytopenia with leukocyte inclusions, May-Hegglin anomaly, Sebastian syndrome, and Fechtner syndrome, are rare human disorders characterized by a triad of giantExpand
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Genomic structure of the murine IL-6 gene. High degree conservation of potential regulatory sequences between mouse and human.
The genomic clone of mouse IL-6 was isolated and compared with the human IL-6 gene. The comparison revealed that the mouse IL-6 consists of five exons and four introns and that the overallExpand
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Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions
AbstractThe autosomal dominant macrothrombocytopenia with leukocyte inclusions, May-Hegglin anomaly (MHA), Sebastian syndrome (SBS), and Fechtner syndrome (FTNS), are rare platelet disordersExpand
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Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).
Macrothrombocytopenia with leukocyte inclusions is a rare autosomal dominant platelet disorder characterized by a triad of giant platelets, thrombocytopenia, and characteristic Döhle body-likeExpand
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Genetic Abnormalities of Bernard-Soulier Syndrome
Bernard-Soulier Syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for vonExpand
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Accelerated phenol removal by amplifying the gene expression with a recombinant plasmid encoding catechol-2,3-oxygenase
Abstract The metabolic pathway of the phenol degradation in Pseudomonas putida BH was amplified by introducing the recombinant plasmid pBH500 containing catechol-2,3-oxygenase gene isolated from theExpand
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Clinical Trial to Investigate the Pharmacokinetics, Pharmacodynamics, Safety, and Efficacy of Recombinant Factor VIIa in Japanese Patients With Hemophilia With Inhibitors
A multicenter and open-labeled clinical trial of human recombinant factor VIIa (rFVIIa) was conducted in Japanese patients with severe hemophilia A or B with inhibitors. The trial consisted of 2Expand
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Carrier detection in Japanese hemophilia A by use of three intragenic and two extragenic factor VIII DNA probes: a study of 24 kindreds.
The three factor VIII intragenic restriction fragment length polymorphisms (RFLPs), Bcll, Xbal, and Bgll and the two extragenic RFLPs, Bglll/DX13 and Taql/St14, were analyzed in 60 normal JapaneseExpand
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Hereditary spastic paraplegia with a thin corpus callosum and thalamic involvement in Japan
The authors examined two Japanese siblings with a recessive hereditary spastic paraplegia (HSP) with dementia and a thin corpus callosum. Both showed thalamic glucose hypometabolism on PET. RecessiveExpand
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