A single base-pair deletion in the protein C gene causing recurrent thromboembolism
β Scribed by C. Grundy; H. Plendl; W. Grote; B. Zoll; V.V. Kakkar; D.N. Cooper
- Book ID
- 119038035
- Publisher
- Elsevier Science
- Year
- 1991
- Tongue
- English
- Weight
- 460 KB
- Volume
- 61
- Category
- Article
- ISSN
- 0049-3848
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A CGA----TGA transition in the protein C gene, resulting in an Arg306----Term substitution, was detected in a Swedish kindred with thrombotic disease whose members exhibit plasma protein C activity/antigen levels consistent with type I protein C deficiency. Although an identical lesion has been repo
A novel homozygous CCC----CTC (Pro 247----Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the conditi