Deep intronic variations may cause mild hemophilia A

A genomic view of alternative splicing

Barmak Modrek, Christopher Lee · Nature Genetics · 2002 · 1.3K citations

Transcriptional Regulation, Genetics, Sequence Analysis +8

Frequent Alternative Splicing of Human Genes

Andrey A. Mironov, James W. Fickett, Mikhail S. Gelfand · Genome Research · 1999 · 548 citations · Full text

Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels

Hanna Mikkola, Martti Syrjälä, Vesa Rasi et al. · Blood · 1994 · 170 citations · Full text

The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype

Maurizio Margaglione, Giancarlo Castaman, Massimo Morfini et al. · Haematologica · 2008 · 100 citations · Full text

Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene

Osman El‐Maarri, U. Herbiniaux, Jochen Graw et al. · Journal of Thrombosis and Haemostasis · 2005 · 82 citations

Hemophilia A Patients, Genetics, Pathogenesis +6