5 research outputs found
Rapid platelet morphological changes visualized by scanning-electron microscopy: kinetics derived from a quenched-flow approach
No full textChristmas Disease (Haemophilia B) in a Girl with Deletion of the Short Arm of One X-Chromosome (Functional Turner Syndrome)
No full textA I-year-old girl with severe Christmas disease and a factor IX content less than 1% of normal is described. The family history was negative and coagulation studies on her relatives were normal. Genetic investigation showed an XXp-karyotype with deletion of the short arm of one X-chromosome, a cytogenetic variant of Turner syndrome. The transmission pathway of the haemophilia gene is discussed
