Protein Z deficiency is associated with thrombophilia. Various mutations of protein sequency and regulatory intron variation may result in reduced protein Z expression. The effect is mostly additive.
1. |
Yin ZF et al. (2000) Prothrombotic phenotype of protein Z deficiency. |
2. |
Vasse M et al. (2001) Frequency of protein Z deficiency in patients with ischaemic stroke. |
3. |
None (2001) Protein Z-dependent regulation of coagulation. |
4. |
Lichy C et al. (2004) A common polymorphism of the protein Z gene is associated with protein Z plasma levels and with risk of cerebral ischemia in the young. |
5. |
Souri M et al. (2005) A naturally occurring E30Q mutation in the Gla domain of protein Z causes its impaired secretion and subsequent deficiency. |
6. |
Santacroce R et al. (2006) Low protein Z levels and risk of occurrence of deep vein thrombosis. |
7. |
Kemkes-Matthes B et al. (1995) Protein Z deficiency: a new cause of bleeding tendency. |
8. |
Gamba G et al. (1998) Bleeding tendency of unknown origin and protein Z levels. |
9. |
Ravi S et al. (1998) Protein Z in healthy human individuals and in patients with a bleeding tendency. |
10. |
Gris JC et al. (2002) High frequency of protein Z deficiency in patients with unexplained early fetal loss. |
11. |
None (2008) Protein Z, a protein seeking a pathology. |
12. |
Sofi F et al. (2010) A meta-analysis of potential risks of low levels of protein Z for diseases related to vascular thrombosis. |
13. |
OMIM.ORG article Omim 614024 |