protein s deficiency/arginine

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NakalaMajaribio ya klinikiHati miliki

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7 matokeo

[Pedigree survey in a family with hereditary protein S deficiency].

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Ingia / Ingia

Objective: To observe the clinical feature of familiar hereditary protein S deficiency(HPSD), and to explore the related gene mutations. Methods: A total of seven family members were enrolled in this study and examined during the June to September 2015. Medical histories of the families were

Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation.

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Ingia / Ingia

BACKGROUND The association between protein S deficiency (PSD) and ischemic stroke is controversial and warrants further investigation. METHODS We conducted a genotype and MRI correlation study in a Chinese family in which hereditary PSD cosegregated with premature ischemic strokes. Six out of 11

A novel mutation Gly222Arg in PROS1 causing protein S deficiency in a patient with pulmonary embolism.

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Ingia / Ingia

ractText>Thrombophilia is becoming a more frequently reported disorder these years. Hereditary protein S deficiency is one of the anticoagulant deficiencies that eventually results in thrombophilia.ractText>ractText>A 24-year-old male patient was suffering from unexplained thrombosis

One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.

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Ingia / Ingia

We investigated the molecular basis of type I protein S (PS) deficiency in two unrelated Japanese families, in which both probands developed pulmonary embolism associated with deep vein thrombosis. Nucleotide sequencing of amplified DNA revealed distinct point mutations in the PROS1 gene of the

Protein C and protein S deficiency - practical diagnostic issues.

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Ingia / Ingia

Protein C (PC) and protein S (PS) are vitamin K-dependent glycoproteins, that act as natural anticoagulants. The proteolytic activation of PC by thrombin occurs on the surface of endothelial cells and involves thrombomodulin and endothelial PC receptor. In the presence of PS, phospholipids and

Leiden factor V mutation in four patients with small bowel infarctions.

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Ingia / Ingia

The Leiden factor V mutation is observed in 20% of unexplained lower limb venous thromboses and involves substitution of the arginine residue at position 506 by glutamine (R506Q). It is known to decrease the anticoagulant activity of activated protein C. This case report describes 4 cases of small

Inherited resistance to activated protein C caused by presence of the FV:Q506 allele as a basis of venous thrombosis.

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Ingia / Ingia

Inherited resistance to activated protein C (APC) was recently discovered as a cause of familial thrombophilia and is now known to be the most common genetic risk factor for venous thrombosis. In a majority of cases, APC resistance is associated with a single point mutation in the factor V gene,

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Herbal & Natural Medicine

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