Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
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Yin ZF et al. (2000) Prothrombotic phenotype of protein Z deficiency. 
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Vasse M et al. (2001) Frequency of protein Z deficiency in patients with ischaemic stroke.
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None (2001) Protein Z-dependent regulation of coagulation.
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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.
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Souri M et al. (2005) A naturally occurring E30Q mutation in the Gla domain of protein Z causes its impaired secretion and subsequent deficiency.
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Santacroce R et al. (2006) Low protein Z levels and risk of occurrence of deep vein thrombosis.
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Kemkes-Matthes B et al. (1995) Protein Z deficiency: a new cause of bleeding tendency.
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Gamba G et al. (1998) Bleeding tendency of unknown origin and protein Z levels.
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Ravi S et al. (1998) Protein Z in healthy human individuals and in patients with a bleeding tendency.
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Gris JC et al. (2002) High frequency of protein Z deficiency in patients with unexplained early fetal loss.
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None (2008) Protein Z, a protein seeking a pathology.
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| 12. |
Sofi F et al. (2010) A meta-analysis of potential risks of low levels of protein Z for diseases related to vascular thrombosis.
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| 13. |
OMIM.ORG article Omim 614024
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