Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Protein S Study Group
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چکیده
منابع مشابه
Protein S inherited qualitative deficiency: novel mutations and phenotypic influence.
BACKGROUND Only a few mutations associated with qualitative protein S deficiency have already been described. Sensitivity and specificity for type II PROS1 mutations of commercially available reagents for measuring Protein S (PS) activity are not well established. Whether these mutations are significant risk factors for thrombosis remains an unresolved question. METHODS In order to address th...
متن کاملLacunar infarction in child with Protein S deficiency: a case report
Abstract Arterial ischemic stroke defines as a new focal neurologic deficit that lasted 24 hours or longer. Stroke is relatively rare in children and incidence of cerebrovascular disease is 1 per 4000 in neonates and 1 per 7000 to 1 per 70000 in older children (1 month to 18 years). Protein S deficiency is one of the causes of the stroke in children. Major manifestations of protein S deficienc...
متن کاملFamilial protein S deficiency is associated with recurrent thrombosis.
Recent studies have demonstrated that protein C deficiency is associated with recurrent familial thrombosis. In plasma, activated protein C functions as an anticoagulant. This anticoagulant response requires a vitamin K-dependent plasma protein cofactor, referred to as protein S. Since the anticoagulant activity of activated protein C is dependent on protein S, we hypothesized that patients lac...
متن کاملStroke and familial protein S deficiency.
To the Editor: We have read with special attention the letter of Davous et al. Because the association between hereditary protein S deficiency and cerebral arterial thrombosis is controversial,' we are reporting another case with this same association in which other members of the family were affected by arterial thrombotic diseases. A 44-year-old man was admitted to our hospital a few hours af...
متن کاملCerebral infarction and familial protein S deficiency.
References 1. Levine SR, Welch KMA: Cerebrovascular ischemia associated with lupus anticoagulant. Stroke 1987; 18:257-263 2. Levine SR, Welch KMA: The spectrum of neurological disease associated with antiphospholipid antibodies: Lupus anticoagulants and anticardiolipin antibodies. Arch Neurol 1987;44: 876-883 3. Levine SR, Welch KMA: Antiphospholipid antibodies. Ann Neurol 1989;26:386-389 4. Ya...
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ژورنال
عنوان ژورنال: Blood
سال: 1996
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v88.11.4195.4195