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项目编号 PRJNA423127
项目标题 NHLBI TOPMed: My Life, Our Future – Genotyping for Progress in Hemophilia
涉及领域 Medical
数据类型 Phenotype or Genotype
样品范围 Multiisolate
生物名称 Homo sapiens [Taxonomy ID: 9606]
描述信息 Hemophilia A and B are X-linked bleeding disorders resulting from a deficiency in coagulation factor VIII (FVIII) or factor IX (FIX), respectively. Hemophilia affects approximately 1/5000 male births worldwide, and results in premature death and disability due to bleeding if coagulation factor replacement therapy is not used effectively. Hemophilia is clinically categorized by coagulation factor activity levels and ranges in severity from mild (6% to 30%) to moderate (1-5%) to severe (<1%). Many female "carriers" of hemophilia also have decreased factor activity and morbidity from bleeding. Hemophilia A and B are almost always caused by identifiable mutations in the F8 and F9 genes, respectively, and these mutations are found throughout the structural genes. Although the hemophilias... (for more see dbGaP study page.)
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提交单位 PUGET SOUND BLOOD CENTER
数据来源 NCBI

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Experiment (5137)  show -