Samin Mohsenian1, Omid Seidizadeh2, Andrea Cairo2

  • 1Università degli Studi di Milano, Department of Pathophysiology and Transplantation, Milan, Italy.

概括

罕见的出血障碍 (RBDs) 具有广泛的遗传变异特征. 这项研究分析了761例RBD病例,发现影响催化域的误解变异是最常见的,有助于诊断和理解这些罕见的疾病.

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