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Showing 1-6 of 6 results for "hpa018284" within Papers
B Brenner et al.
Blood, 92(12), 4554-4559 (1998-12-09)
To identify potential mutations in the gamma-glutamyl carboxylase gene, the sequence of all exons and intron/exon borders was determined in 4 patients from a consanguineous kindred with combined deficiency of all vitamin K-dependent procoagulants and anticoagulants and results were compared
Simone Rost et al.
British journal of haematology, 126(4), 546-549 (2004-08-04)
Hereditary combined deficiency of the vitamin K-dependent coagulation factors II, VII, IX, X, protein C, S and protein Z (VKCFD) is a very rare autosomal recessive inherited bleeding disorder. The phenotype may result from functional deficiency of either the gamma-glutamyl
J Tie et al.
Blood, 96(3), 973-978 (2000-07-27)
gamma-Glutamyl carboxylase (GC), a polytopic membrane protein found in the endoplasmic reticulum (ER), catalyzes vitamin K-dependent posttranslational modification of glutamate to gamma-carboxyl glutamate. In an attempt to delineate the structure of this important enzyme, in vitro translation and in vivo
Olivier M Vanakker et al.
The Journal of investigative dermatology, 127(3), 581-587 (2006-11-18)
Data on six patients with a Pseudoxanthoma Elasticum (PXE)-like phenotype, characterized by excessive skin folding (resembling cutis laxa) and a deficiency of the vitamin K-dependent clotting factors (II, VII, IX, and X) are presented. A comparison is made between the
Xiayizha Kamali et al.
Lipids in health and disease, 12, 149-149 (2013-10-24)
To study the effects of γ-glutamyl carboxylase (GGCX) rs2592551 polymorphism on warfarin dose in atrial fibrillation patients in Xinjiang region. Polymerase chain reaction - restriction fragment length polymorphism and direct sequencing methods were used to detect the rs2592551 genotype in
Yundan Liang et al.
Genetic testing and molecular biomarkers, 17(12), 932-936 (2013-08-15)
Warfarin is a commonly used anticoagulant with a narrow therapeutic range and large interindividual differences in dosing requirements. Previously, studies have identified that the interindividual variability was influenced by varieties of factors, including age, body size, vitamin K intake, interacting
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