Recurrent and novel disease-causing F8 variants in boys with severe haemophilia A in Poland.

Szymon JanczarKatarzyna Babol-PokoraIzabela Jatczak-PawlikKamila WypyszczakAnna KlukowskaPawel LagunaMagdalena KostrzewskaOlga WegnerJaroslaw ZielinskiAndrzej KoltanHalina BobrowskaIrena Woznica-KarczmarzLucja DakowiczMarek WlazlowskiIwona RuranskaGrzegorz DobaczewskiMonika RadwanskaGrazyna KarolczykDanuta PietrysWalentyna BalwierzShaji K KumarTomasz UrasińskiRafal PloskiWojciech Mlynarski

Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2019)

Keyphrases

copy number
early onset
gene expression
dna methylation
genome wide