A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE)-Reference-Cited by-同舟云学术

A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE)

Published:2013-07 Issue:7 Volume:11 Page:1251-1259
ISSN:1538-7933
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:J Thromb Haemost

Author:

Pagliari M. T.¹,Baronciani L.¹,Garcìa Oya I.¹,Solimando M.¹,La Marca S.¹,Cozzi G.¹,Stufano F.¹,Canciani M. T.¹,Peyvandi F.¹

Affiliation:

1. Angelo Bianchi Bonomi Hemophilia and Thrombosis Center; U.O.S. Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie; Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; Universita’ degli Studi di Milano and Fondazione Luigi Villa; Milan Italy

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jth.12280/fullpdf

Reference27 articles.

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3. Code inside the codon: The role of synonymous mutations in regulating splicing machinery and its impact on disease;Mutation Research/Reviews in Mutation Research;2022-07

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