Characterization of Patients with Glanzmann Thrombasthenia and Identification of 17 Novel Mutations

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Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations.

Glanzmann thrombasthenia (GT) is an inherited genetic disorder affecting platelets, which is characterized by spontaneous mucocutaneous bleeding and abnormally prolonged bleeding in response to injury or trauma. The underlying defect is failure of platelet aggregation due to qualitative and/or quantitative deficiency of platelet integrin αIIbβ3 resulting from molecular genetic defects in either...

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Patients With Glanzmann Thrombasthenia Lacking Platelet Glycoprotein

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Glanzmann thrombasthenia

Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. The molecular basis is linked to quantitative and/or qualitative abnormalities of alphaIIb beta3 integrin. This receptor mediates the binding of adhesive proteins that attach aggregating platelets and ensure thrombus formation at si...

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Molecular and Clinical Characterization of 7 Iranian Patients with Severe Congenital Factor V Deficiency: Identification of 4 Novel Mutations

Background and Aims: Congenital factor V (FV) deficiency is a rare bleeding disorder with 1 in 1000000 persons in the general population. Individuals with FV activity <1% and very low FV antigen levels are characterized as severe FV deficient patients. Little data is available about the molecular basis of this bleeding disorder in Iran. Materials and Methods: We analyzed 7 unrelated Iranian FV...

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A 2-year-old, female intact, mixed-breed dog was presented to the Bailey Small Animal Teaching Hospital at Auburn University for investigation of lifelong, intermittent petechial hemorrhage. Historically, the dog also had excessive gingival bleeding during tooth eruption. The dog was found as a stray and was 1 of a litter of puppies. A male sibling was reported to have a similar history of pete...

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ژورنال

عنوان ژورنال: Blood

سال: 2014

ISSN: 0006-4971,1528-0020

DOI: 10.1182/blood.v124.21.1460.1460