References

1-  Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004;104:1243-1252

2-  Peyvandi F, Duga S, Akhavan S, Mannucci PM. Rare coagulation deficiencies. Haemophilia 2002; 8: 308-321

3-  Tuddenham EGD, Cooper DN. The Molecular Genetics of Haemostasis and Its Inherited Disorders. Oxford, United Kingdom: Oxford Medical Publications; 1994. Oxford Monography on Medical Genetics No. 25

4-  Nichols WC, Seligsohn U, Zivelin A, et al. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell. 1998;93:61-70.

5-  Zhang B, Cunningham MA, Nichols WC, et al. Bleeding due to disruption of a cargo-specific ER to-Golgi transport complex. Nat Genet. 2003;34:220-225.

6-  Sadler JE. K for koagulation. Nature. 2004;427: 493-494.

7-  Acharya SS, Coughlin A, Dimichele DM. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost. 2004;2:248-256.

8-  Neerman-Arbez M, Honsberger A, Antonarakis SE, Morris MA. Deletion of the fibrinogen alphachain gene (FGA) causes congenital afibrinogenemia. J Clin Invest. 1999;103:215-218.

9-  Bolton-Maggs PHB, Perry DJ, Chalmers EA, et al. The rare coagulation disorders - review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia 2004;10:1-36

10-  British Committee for Standards in Haematology, Blood Transfusion Task Force (J. Duguid, Chairman): O'Shaughnessy DF, Atterbury C, Bolton Maggs PHB, Murphy M, Thomas D, Yates S, Williamson LM. Guidelines for the use of fresh-frozen plasma, cryoprecipitate and cryosupernatant. Br J Haematol. 2004;126:11-28

11-  Di Paola J, Nugent D, Yuong G. Current therapy for rare factor deficiencies. Haemophilia 2001; suppl.1: 16-22

12-  Guide for the Assessment of Clotting Factor Concentrates for the Treatment of Hemophilia:

http://www.wfh.org/Content_Documents/Other_Publications/Reg_Guide_Eng.pdf