SVA retrotransposition in exon 6 of the coagulation factor IX gene causing severe hemophilia B

A complex genomic abnormality found in a patient with antithrombin deficiency and autoimmune disease-like symptoms

(2014) Io Kato et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Retroelements in human disease

(2013) Kristel Kaer et al.   GENE

The CDC Hemophilia B mutation project mutation list: a new online resource

(2013) Tengguo Li et al.   Molecular Genetics & Genomic Medicine

Active human retrotransposons: variation and disease

(2012) Dustin C Hancks et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

(2011) Mariko Taniguchi-Ikeda et al.   NATURE

The non-autonomous retrotransposon SVA is trans -mobilized by the human LINE-1 protein machinery

(2011) Julija Raiz et al.   NUCLEIC ACIDS RESEARCH

LINE-1 Retrotransposition Activity in Human Genomes

(2010) Christine R. Beck et al.   CELL

Exon-trapping mediated by the human retrotransposon SVA

(2009) D. C. Hancks et al.   GENOME RESEARCH

Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B

(2008) K. OKUMURA et al.   HAEMOPHILIA