Type I protein S deficiency and skin necrosis.

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Type I protein S deficiency and skin necrosis.

A kindred with Type I protein S deficiency is described in which the index case developed skin necrosis during induction of oral anticoagulant therapy for deep venous thrombosis. Two other family members with protein S deficiency have been detected, and demonstrate the clinical variability of this condition.

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Similar hypercoagulable state and thrombosis risk in type I and type III protein S-deficient individuals from families with mixed type I/III protein S deficiency.

BACKGROUND Protein S, which circulates in plasma in both free and bound forms, is an anticoagulant protein that stimulates activated protein C and tissue factor pathway inhibitor. Hereditary type I protein S deficiency (low total and low free protein S) is a well-established risk factor for venous thrombosis, whereas the thrombosis risk associated with type III deficiency (normal total and low ...

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Protein S deficiency type I: identification of point mutations in 9 of 10 families.

We identified potentially causative mutations in the active protein S gene (PROS 1) by direct sequencing of PROS 1-specific polymerase chain reaction (PRC) products of all 15 exons, including exon-intron boundaries in 10 families with hereditary protein S deficiency type I. Seven different mutations were found in 9 of 10 families, including one frame shift mutation, a previously published splic...

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ژورنال

عنوان ژورنال: Postgraduate Medical Journal

سال: 1990

ISSN: 0032-5473

DOI: 10.1136/pgmj.66.775.389