Heterozygous and Homozygous Factor XI Defect in a Consanguineous Family
| Autor: | G.I.C. Ingram, C.R. Rizza |
|---|---|
| Rok vydání: | 1976 |
| Předmět: |
Male
Heterozygote congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Consanguineous family business.industry Homozygote Age Factors macromolecular substances Hematology General Medicine Dermatology female genital diseases and pregnancy complications Pedigree Coagulation Immunology medicine Humans Female business |
| Zdroj: | Acta Haematologica. 55:48-52 |
| ISSN: | 1421-9662 0001-5792 |
| DOI: | 10.1159/000207992 |
| Popis: | A woman with symptoms of prolonged post-traumatic bleeding was found to have a severe defect of factor XI, and was thought to be homozygously affected. Both her parents, who were first cousins, and all her three children, though asymptomatic, showed a moderate defect and appeared to be heterozygous. Both her parents' factor XI levels were about twice those in her children, and this was thought to be an age effect. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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