Hageman Trait (Factor XII Deficiency): A Probable Second Genotype Inherited as an Autosomal Dominant Characteristic
نویسندگان
چکیده
منابع مشابه
Hageman trait (factor XII deficiency): a probably second genotype inherited as an autosomal dominant characteristic.
A family is described in which HageImmunologic studies suggested that man trait appeared to be inherited in the molecular defect was similar to an autosomal dominant manner in that of the autosomal recessive form contrast to previously reported families and consisted of deficiency of antiin which the disorder behaves as an gens related to Hageman factor. autosomel recessive characteristic. H AG...
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IN CONTRAST to the hereditary disorders of red cells and white cells, inherited disorders of the platelets appear to be rare. Among the few reports of hereditary thrombocytopenia,1'4 some lack essential history or supporting laboratory data. Those which present more convincing evidence display a remarkable variety cf clinical features and genetic patterns. Only the so-called Aldrich syndrome7 e...
متن کاملIsolation and properties of an abnormal Hageman factor (Factor XII) molecule in a cross-reacting material-positive hageman trait plasma.
We have previously described two unrelated individuals with homozygous Hageman trait (Factor XII deficiency) whose plasmas contained nonfunctional material immunologically indistinguishable from normal Hageman factor (HF). Abnormal HF from the plasma of one these subjects has now been purified to homogeneity, as judged by sodium dodecyl sulfate-polyacrylamide gel electrophoresis, alkaline disc ...
متن کاملInvited Commentary. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited adult-onset microangiopathy caused by missense mutations in the Notch3gene on chromosome 19. However, common vascular risk factors may additionally modify clinical expression and progression of the disease. The role of various prothrombotic factors has also been implied. We repor...
متن کاملStudies on the inhibition of ellagic acid-activated Hageman factor (factor XII) and Hageman factor fragments.
Hageman factor (HF, factor XII) that has been exposed to Sephadex-ellagic acid gels is a single-chain species (HFea) with amidolytic properties for the synthetic substrate H-D-phenylalanyl-L-pipecolyl-L-arginine p-nitroanilide. Earlier we reported that amidolysis was suppressed by incubation of HFea with specific antiserum. The present study provides additional evidence that the amidolytic prop...
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ژورنال
عنوان ژورنال: Blood
سال: 1972
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v40.3.412.412