Article
Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
Thrombosis and haemostasis - 4 Jul 2016
Fidalgo Teresa, Salvado Ramon, Corrales Irene, Pinto Silva Catarina, Borràs Nina, Oliveira Ana, Martinho Patricia, Ferreira Gisela, Almeida Helena, Oliveira Cristina, Marques Dalila, Gonçalves Elsa, Diniz MJoão, Antunes Margarida, Tavares Alice, Caetano Gonçalo, Kjöllerström Paula, Maia Raquel, Sevivas Teresa S, Vidal Francisco, Ribeiro Leticia
Abstract excerpt
The diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency and heterogeneous laboratory phenotype. The sequencing of the entire VWF coding region has not yet become a routine practice in diagnostic laboratories owing to its high costs. Nevertheless, next-generation sequencing (NGS) has emerged as an alternative to overcome this...
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