F8 IVS9+5G>A mutation causes moderate haemophilia A.

M. A. Zimmermann, A. Gehrig, J. Oldenburg, C. R. Müller, S. Rost, Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations. Haemophilia. ,vol. 19, pp. 310- 317 ,(2013) , 10.1111/HAE.12039

Yeling Lu, Yufeng Ruan, Qiulan Ding, Xuefeng Wang, Xiaodong Xi, Hongli Wang, Qian Liang, Mingjie Xiang, Characterisation and quantification of F8 transcripts of ten putative splice site mutations Thrombosis and Haemostasis. ,vol. 113, pp. 585- 592 ,(2015) , 10.1160/TH14-06-0523

B Pezeshkpoor, N Zimmer, N Marquardt, I Nanda, T Haaf, U Budde, J Oldenburg, O El‐Maarri, None, Deep intronic ‘mutations’ cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA Journal of Thrombosis and Haemostasis. ,vol. 11, pp. 1679- 1687 ,(2013) , 10.1111/JTH.12339

Flora Peyvandi, Tom Kunicki, David Lillicrap, Genetic sequence analysis of inherited bleeding diseases. Blood. ,vol. 122, pp. 3423- 3431 ,(2013) , 10.1182/BLOOD-2013-05-505511

Yeon Lee, Donald C. Rio, Mechanisms and Regulation of Alternative Pre-mRNA Splicing Annual Review of Biochemistry. ,vol. 84, pp. 291- 323 ,(2015) , 10.1146/ANNUREV-BIOCHEM-060614-034316

Vytautas Ivaskevicius, Meganathan Kannan, Rafeeq P. H. Ahmed, Renu Saxena, Johannes Oldenburg, Erhard Seifried, Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A Haematologica. ,vol. 90, pp. 283- 284 ,(2005) , 10.3324/%X

Peter J. Lenting, Jan A. van Mourik, Koen Mertens, The life cycle of coagulation factor VIII in view of its structure and function. Blood. ,vol. 92, pp. 3983- 3996 ,(1998) , 10.1182/BLOOD.V92.11.3983

O El Maarri, B Pezeshkpoor, AC Berkemeier, J Oldenburg, KJ Czogalla, None, Evidence of pathogenicity of a mutation in 3' untranslated region causing mild haemophilia A. Haemophilia. ,vol. 22, pp. 598- 603 ,(2016) , 10.1111/HAE.12923

Jose González-Porras, Cristina Jiménez, Rocio Benito, Gonzalo R. Ordoñez, Maria Álvarez-Román, M. Elena Fontecha, Kamila Janusz, David Castillo, Rosa Fisac, Luis García-Frade, Carlos Aguilar, Paz Martínez, Nuria Bermejo, Sonia Herrero, Ana Balanzategui, Jose Martin-Antorán, Rafael Ramos, Maria Cebeiro, Emilia Pardal, Carmen Aguilera, Belen Pérez-Gutierrez, Manuel Prieto, Susana Riesco, Maria Mendoza, Ana Benito, Ana Benito-Sendin, Victor Jimenez-Yuste, Jesus Hernández-Rivas, Ramon García-Sanz, Marcos González-Díaz, Maria Sarasquete, Jose Bastida, Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes Thrombosis and Haemostasis. ,vol. 117, pp. 66- 74 ,(2016) , 10.1160/TH16-05-0375

Yigong Shi, Mechanistic insights into precursor messenger RNA splicing by the spliceosome Nature Reviews Molecular Cell Biology. ,vol. 18, pp. 655- 670 ,(2017) , 10.1038/NRM.2017.86