Deep intronic ‘mutations’ cause hemophilia A: application of next generation sequencing in patients without detectable mutation inF8cDNA

BRCA2 Deep Intronic Mutation Causing Activation of a Cryptic Exon: Opening toward a New Preventive Therapeutic Strategy

(2012) O. Anczukow et al.   CLINICAL CANCER RESEARCH

Investigation of disease-associated factors in haemophilia A patients without detectable mutations

(2012) C. HALLDÉN et al.   HAEMOPHILIA

Identification and characterization of an adenine to guanine transition within intron 10 of the factor VIII gene as a causative mutation in a patient with mild haemophilia A

(2012) H. Inaba et al.   HAEMOPHILIA

Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats

(2012) B. PEZESHKPOOR et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Deep intronic variations may cause mild hemophilia A

(2011) G. CASTAMAN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

HPRT Deficiency: Identification of Twenty-Four Novel Variants Including an Unusual Deep Intronic Mutation

(2011) A. Corrigan et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

Novel Associations of Multiple Genetic Loci With Plasma Levels of Factor VII, Factor VIII, and von Willebrand Factor

(2010) Nicholas L. Smith et al.   CIRCULATION

F8 mRNA studies in haemophilia A patients with different splice site mutations

(2010) G. CASTAMAN et al.   HAEMOPHILIA

Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia a in southern Italy

(2008) Rosa Santacroce et al.   BLOOD COAGULATION & FIBRINOLYSIS