Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.

Almudena Pérez-RodríguezJavier BatlleJoana Costa PintoIrene CorralesNina BorràsIris Garcia-MartínezAna Rosa CidSantiago BonanadRafael ParraMaría Eva Mingot-CastellanoNira NavarroCarmen AltisentRocío Pérez-MontesAna MoretóSonia HerreroInmaculada SotoNuria Fernández MosteirínVíctor Jiménez-YusteAurora de Andrés JacobEmilia FontanesJosé MateoNerea Castro QuismondoFernando BatlleFrancisco VidalMaría Fernanda López-Fernándeznull null

Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2021)

The high detection yield and affordability of next-generation sequencing support the use of this technology as a first-line diagnostic tool in this setting.

Keyphrases

quality improvement
loop mediated isothermal amplification
copy number
label free
real time pcr
circulating tumor
dna methylation