Coinheritance of three novel FV gene mutations in a patient with a severe FV deficiency.

作者: V. BAFUNNO , G. FAVUZZI , T. FIERRO , M. CHETTA , E. MASTRODICASA

DOI: 10.1111/J.1365-2516.2011.02747.X

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参考文章(7)
J. N. HUANG, M. A. KOERPER, Factor V deficiency: a concise review Haemophilia. ,vol. 14, pp. 1164- 1169 ,(2008) , 10.1111/J.1365-2516.2008.01785.X
Larry D. Cripe, Karen D. Moore, William H. Kane, Structure of the gene for human coagulation factor V. Biochemistry. ,vol. 31, pp. 3777- 3785 ,(1992) , 10.1021/BI00130A007
B. D. M. Theophilus, M. S. Enayat, M. D. Williams, F. G. H. Hill, Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A. Haemophilia. ,vol. 7, pp. 381- 391 ,(2001) , 10.1046/J.1365-2516.2001.00528.X
Lawrence A Kelley, Michael J E Sternberg, Protein structure prediction on the Web: a case study using the Phyre server. Nature Protocols. ,vol. 4, pp. 363- 371 ,(2009) , 10.1038/NPROT.2009.2
Vasily Ramensky, Peer Bork, Shamil Sunyaev, Human non‐synonymous SNPs: server and survey Nucleic Acids Research. ,vol. 30, pp. 3894- 3900 ,(2002) , 10.1093/NAR/GKF493
Pauline C Ng, Steven Henikoff, SIFT: predicting amino acid changes that affect protein function Nucleic Acids Research. ,vol. 31, pp. 3812- 3814 ,(2003) , 10.1093/NAR/GKG509