Abstract
A study of a family with a propositus suffering from classical thrombasthenia type I has shown that the new immunochemical methods detect heterozygotes with high reliability. There was no overlapping between heterozygotes and normals, and the concentration of the glycoproteins IIb-IIIa-complex is remarkable constant around 50-60% in the heterozygotes. Furthermore, heterozygotes as a group show an increased bleeding tendency.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Animals
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Blood Coagulation Tests
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Blood Platelet Disorders / blood
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Blood Platelet Disorders / diagnosis*
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Blood Platelet Disorders / genetics
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Blood Platelets / analysis*
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Child
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Child, Preschool
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Female
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Fibrinogen / analysis
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Genetic Carrier Screening*
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Glycoproteins / blood
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Humans
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Immunoelectrophoresis, Two-Dimensional
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Male
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Middle Aged
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Platelet Function Tests
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Platelet Membrane Glycoproteins
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Rabbits
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Serum Albumin / analysis
Substances
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Glycoproteins
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Platelet Membrane Glycoproteins
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Serum Albumin
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Fibrinogen