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This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Schrijver, I. Articles by Zehnder, J. L. Search for Related Content PubMed PubMed Citation Articles by Schrijver, I. Articles by Zehnder, J. L. Related Collections Hemostasis, Thrombosis, and Vascular Biology Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 April 2002, Vol. 99, No. 8, pp. 3063-3065 BRIEF REPORT Homozygous factor V splice site mutation associated with severe factor V deficiency Iris Schrijver, Marion A. Koerper, Carol D. Jones, and James L. Zehnder From the Department of Pathology, Stanford University School of Medicine, and the Department of Pediatric Hematology, University of California at San Francisco. We investigated a family whose proband has a severe bleeding disorder and factor V antigenic and functional levels of 8% and less than 1% of control values, respectively. Molecular analysis of the factor V gene revealed a novel homozygous mutation in the last nucleotide of exon 10. 1701G>T causes activation of a cryptic exonic splice site in exon 10, which encodes part of the factor V heavy chain (A2 domain). This leads to the deletion of 35 nucleotides and results in a frameshift with a premature stop codon at amino acid position 498. The G1701 and corresponding Gln509 are conserved in murine, bovine, and porcine factor V and in human factor VIII. Few factor V deficiency mutations have been identified as yet. Several are present in the heterozygous form in combination with factor V Leiden (Arg506Gln). This is the first reported homozygous splice site mutation in a patient with factor V deficiency. © 2002 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: C. Dall'Osso, I. Guella, S. Duga, N. Locatelli, E. M. Paraboschi, M. Spreafico, A. Afrasiabi, C. Pechlaner, F. Peyvandi, M. L. Tenchini, et al. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern Haematologica, October 1, 2008; 93(10): 1505 - 1513. [Abstract] [Full Text] [PDF] B. Lunghi, M. Pinotti, I. Maestri, A. Batorova, and F. Bernardi Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency Haematologica, March 1, 2008; 93(3): 477 - 478. [Abstract] [Full Text] [PDF] X. Roca, R. Sachidanandam, and A. R. Krainer Intrinsic differences between authentic and cryptic 5' splice sites Nucleic Acids Res., November 1, 2003; 31(21): 6321 - 6333. [Abstract] [Full Text] [PDF] M. C. Montefusco, S. Duga, R. Asselta, M. Malcovati, F. Peyvandi, E. Santagostino, P. M. Mannucci, and M. L. Tenchini Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations Blood, November 1, 2003; 102(9): 3210 - 3216. [Abstract] [Full Text] [PDF] S. Duga, M. C. Montefusco, R. Asselta, M. Malcovati, F. Peyvandi, E. Santagostino, P. M. Mannucci, and M. L. Tenchini Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein Blood, January 1, 2003; 101(1): 173 - 177. [Abstract] [Full Text] [PDF]

	Copyright © 2002 by American Society of Hematology         Online ISSN: 1528-0020