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Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

30 Apr 2019

Abstract excerpt

Diagnosis of inherited bleeding disorders (IBDs) remains challenging, especially in the case of inherited platelet disorders, due to the heterogeneity of the clinical and laboratory phenotype, the limited specificity of platelet function tests, and the large number of potential culprit genes. Unraveling the underlying molecular defect provides the definitive diagnosis of IBDs, facilitating prognosis and clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31041795
DOI: 10.1055/s-0039-1687889

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