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001-es BibID:	BIBFORM016214
Első szerző:	Bereczky Zsuzsanna (orvosi laboratóriumi diagnosztika szakorvos)
Cím:	Protein C and protein S deficiencies : similarities and differences between two brothers playing in the same game / Bereczky Zsuzsanna, Kovács Kitti B., Muszbek László
Dátum:	2010
ISSN:	1434-6621
Megjegyzések:	Protein C (PC) and protein S (PS) are vitamin K-dependent glycoproteins that play an important role in the regulation of blood coagulation as natural anticoagulants. PC is activated by thrombin and the resulting activated PC (APC) inactivates membrane-bound activated factor VIII and factor V. The free form of PS is an important cofactor of APC. Deficiencies in these proteins lead to an increased risk of venous thromboembolism; a few reports have also associated these deficiencies with arterial diseases. The degree of risk and the prevalence of PC and PS deficiency among patients with thrombosis and in those in the general population have been examined by several population studies with conflicting results, primarily due to methodological variability. The molecular genetic background of PC and PS deficiencies is heterogeneous. Most of the mutations cause type I deficiency (quantitative disorder). Type II deficiency (dysfunctional molecule) is diagnosed in approximately 5%-15% of cases. The diagnosis of PC and PS deficiencies is challenging; functional tests are influenced by several pre-analytical and analytical factors, and the diagnosis using molecular genetics also has special difficulties. Large gene segment deletions often remain undetected by DNA sequencing methods. The presence of the PS pseudogene makes genetic diagnosis even more complicated.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Clinical Chemistry And Laboratory Medicine. - 48 : Suppl.1 (2010), p. S53-S66. -
További szerzők:	Kovács Kitti Bernadett (1985-) (neurológus) Muszbek László (1942-) (haematológus, kutató orvos)
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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