Molecular characterization of a novel mutation in the factor XIII a subunit gene associated with a severe defect: importance of prophylactic substitution

2009 ◽  
Vol 20 (7) ◽  
pp. 605-606 ◽  
Author(s):  
Pierre Morange ◽  
Nawel Trigui ◽  
Corinne Frère ◽  
Hervé Chambost ◽  
Catherine Pouymayou ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Factor Xiii ◽  
Novel Mutation ◽  
Subunit Gene ◽  
A Subunit

Molecular characterization of a novel mutation in the factor XIII A subunit gene associated with a severe defect and an adulthood diagnosis

Haemophilia ◽  
2007 ◽  
Vol 13 (2) ◽  
pp. 221-222 ◽  
Author(s):  
N. TRIGUI ◽  
C. FRÈRE ◽  
C. D'ERCOLE ◽  
H. CHAMBOST ◽  
N. CHAPUIS ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Factor Xiii ◽  
Novel Mutation ◽  
Subunit Gene ◽  
A Subunit

Molecular Characterization of a Novel Mutation in APRT Heterozygotes

1995 ◽  
pp. 675-678 ◽  
Author(s):  
Amrik Sahota ◽  
Steve Bye ◽  
Ju Chen ◽  
Nada H. Khattar ◽  
Mitchell S. Turker ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Novel Mutation

Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families

2004 ◽  
Vol 2 (10) ◽  
pp. 1790-1797 ◽  
Author(s):  
A. Vysokovsky ◽  
R. Saxena ◽  
M. Landau ◽  
A. Zivelin ◽  
R. Eskaraev ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Subunit Gene ◽  
Novel Mutations ◽  
Factor Xiii Deficiency ◽  
Hereditary Factor ◽  
A Subunit

Pharmacokinetic characterization of recombinant factor XIII (FXIII)-A2 across age groups in patients with FXIII A-subunit congenital deficiency

Haemophilia ◽  
2015 ◽  
Vol 21 (3) ◽  
pp. 380-385 ◽  
Author(s):  
B. Brand-Staufer ◽  
M. Carcao ◽  
B. A. Kerlin ◽  
A. Will ◽  
M. Williams ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Age Groups ◽  
Congenital Deficiency ◽  
A Subunit

The G to T point mutation (Val34Leu) in the Factor XIII-A subunit gene in venous leg ulcers

2003 ◽  
Vol 1 ◽  
pp. P0296-P0296
Author(s):  
D. Gemmati ◽  
S. Tognazzo ◽  
M. L. Serino ◽  
L. Fogato ◽  
S. Carandina ◽  
...  
Keyword(s):  
Point Mutation ◽  
Factor Xiii ◽  
Leg Ulcers ◽  
Subunit Gene ◽  
Venous Leg Ulcers ◽  
A Subunit

Allelic Ladder Characterization of the Short Tandem Repeat Polymorphism Located in the 5′ Flanking Region to the Human Coagulation Factor XIII A Subunit Gene

Genomics ◽  
1994 ◽  
Vol 23 (1) ◽  
pp. 260-264 ◽  
Author(s):  
Christoph Puers ◽  
Holly A. Hammond ◽  
C.Thomas Caskey ◽  
Ann M. Lins ◽  
Cynthia J. Sprecher ◽  
...  
Keyword(s):  
Coagulation Factor ◽  
Subunit Gene ◽  
Repeat Polymorphism ◽  
Allelic Ladder ◽  
A Subunit ◽  
Flanking Region ◽  
Human Coagulation Factor Xiii ◽  
Short Tandem ◽  
Tandem Repeat Polymorphism

Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene

1996 ◽  
Vol 98 (4) ◽  
pp. 393-395 ◽  
Author(s):  
K. Suzuki ◽  
Jürgen Henke ◽  
Misa Iwata ◽  
Lotte Henke ◽  
Hiroko Tsuji ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Coagulation Factor ◽  
Subunit Gene ◽  
Coagulation Factor Xiii ◽  
A Subunit ◽  
Human Coagulation Factor Xiii

Alloantibody developed in a factor XIII A subunit deficient patient during substitution therapy; characterization of the antibody

Haemophilia ◽  
2015 ◽  
Vol 22 (2) ◽  
pp. 268-275 ◽  
Author(s):  
K. Pénzes ◽  
C. Vezina ◽  
Z. Bereczky ◽  
É. Katona ◽  
M. Kun ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Substitution Therapy ◽  
Deficient Patient ◽  
A Subunit

A novel insertion mutation (1286insC) in exon 9 of the factor XIII-A subunit gene

1998 ◽  
Vol 9 (5) ◽  
pp. 441-444 ◽  
Author(s):  
S. Aslam ◽  
G. R. Standen ◽  
L. J. Bruce ◽  
R. Gialeraki ◽  
T. Mandalaki
Keyword(s):  
Factor Xiii ◽  
Insertion Mutation ◽  
Subunit Gene ◽  
A Subunit ◽  
Exon 9
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