protein c deficiency/proline

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[Heterozygous protein C deficiency: apropos of 2 cases with cerebral venous thrombosis in the neonatal period].

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Thrombotic accidents in the newborn, particularly cerebrovascular accidents, are reported in case of abnormalities in the coagulation system and rarely in heterozygous protein C deficiency; a low protein C level could be either physiological or acquired. METHODS Two cases of heterozygous protein C

Hereditary protein C deficiency associated with mutations in exon IX of the protein C gene.

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This report describes five families with symptomatic hereditary protein C deficiency. Using a polymerase chain reaction (PCR)-based method, the entire coding sequence and intron-exon boundaries of the protein C gene was amplified from genomic DNA. In each family a single point mutation in the

R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese.

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We analyzed the genetic defects of 21 unrelated patients with venous thrombosis in whom hereditary protein C deficiency was diagnosed. Eleven mutations were detected in 18 families, while no mutation was detectable in the other three families. Among these mutations, a common genetic mutation of

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