The novel acceptor splice site mutation 11396(... [Hum Mol Genet. 1995] - PubMed

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A novel 5'-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in factor XII-deficient patients. [Hum Genet. 1996]
A novel 5'-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in factor XII-deficient patients.
Hofferbert S, Müller J, Köstering H, von Ohlen WD, Schloesser M. Hum Genet. 1996 Jun; 97(6):838-41.
[The genetics of factor XII deficiency]. [Beitr Infusionsther. 1993]
[The genetics of factor XII deficiency].
Kempter B, Rüth S, Epple I, Lohse P. Beitr Infusionsther. 1993; 31:174-8.
Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation. [Blood. 1999]
Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation.
Kondo S, Tokunaga F, Kawano S, Oono Y, Kumagai S, Koide T. Blood. 1999 Jun 15; 93(12):4300-8.
Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency. [Blood Coagul Fibrinolysis. 2004]
Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency.
Ishii K, Oguchi S, Moriki T, Yatabe Y, Takeshita E, Murata M, Ikeda Y, Watanabe K. Blood Coagul Fibrinolysis. 2004 Jul; 15(5):367-73.
Review [Congenital factor VII deficiency]. [Med Klin. 1981]
Review [Congenital factor VII deficiency].
Neidhardt B, Schricker KT. Med Klin. 1981 Jan 2; 76(1):24-6.

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Cited by 2 PubMed Central articles

Factor XII gene mutation in the Hageman family. [J Thromb Haemost. 2011]
Factor XII gene mutation in the Hageman family.
Xu-Cai YO, Shen J, Chen S, Zhou Y, Larusch GA, Stavrou E, Schmaier AH, Wu Q. J Thromb Haemost. 2011 Nov; 9(11):2329-31.
Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. [Nucleic Acids Res. 2006]
Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
Vorechovský I. Nucleic Acids Res. 2006; 34(16):4630-41. Epub 2006 Sep 8.

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The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene caus...
The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.
Hum Mol Genet. 1995 Jul ;4(7):1235-7.

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