Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Protein Z-Mangel

Der Protein Z-Mangel ist eine Erkrankung die zu Thrombophilie führt. Verschiedene Veränderungen der Proteinsequenz und Intron-Variationen können additiv zu einer verminderten Protein Z Expression führen.

Gliederung

Venöse thromboembolische Erkrankungen
Autosomal dominanter Protein C-Mangel
Autosomal dominanter Protein S-Mangel
Autosomal rezessiver Protein C-Mangel
Autosomal rezessiver Protein S-Mangel
F2
F5
Faktor XII-Mangel
HABP2
MTHFR
PAI-Transkriptionsmodulator
Protein Z-Mangel
PROZ
SERPINA10
SERPINC1
THBD
Thrombophilie durch Heparin-Kofaktor 2-Mangel
VKORC1

Referenzen:

1.

Yin ZF et. al. (2000) Prothrombotic phenotype of protein Z deficiency.

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2.

Vasse M et. al. (2001) Frequency of protein Z deficiency in patients with ischaemic stroke.

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3.

None (2001) Protein Z-dependent regulation of coagulation.

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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.

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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.

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6.

Santacroce R et. al. (2006) Low protein Z levels and risk of occurrence of deep vein thrombosis.

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7.

Kemkes-Matthes B et. al. (1995) Protein Z deficiency: a new cause of bleeding tendency.

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8.

Gamba G et. al. (1998) Bleeding tendency of unknown origin and protein Z levels.

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9.

Ravi S et. al. (1998) Protein Z in healthy human individuals and in patients with a bleeding tendency.

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10.

Gris JC et. al. (2002) High frequency of protein Z deficiency in patients with unexplained early fetal loss.

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11.

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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