Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.

doi:10.1111/hae.12908

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Article

Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2016

Bastida J M, Del Rey M, Lozano M L, Sarasquete M E, Benito R, Fontecha M E, Fisac R, García-Frade L J, Aguilar C, Martínez M P, Pardal E, Aguilera C, Pérez B, Ramos R, Cardesa M R, Martin-Antorán J M, Silvestre L A, Cebeira M J, Bermejo N, Riesco S, Mendoza M C, García-Sanz R, González-Díaz M, Hernández-Rivas J M, González-Porras J R

Abstract excerpt

INTRODUCTION: Molecular testing of Inherited bleeding coagulation disorders (IBCDs) not only offers confirmation of diagnosis but also aids in genetic counselling, prenatal diagnosis and in certain cases genotype-phenotype correlations are important for predicting the clinical course of the disease and to allow tailor-made follow-up of individuals. Until recently, genotyping has been mainly performed by Sanger...

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PMID: 26879396
DOI: 10.1111/hae.12908

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