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Recurrent cerebral venous thrombosis: An Arg359X mutation in the antithrombin gene in a Taiwanese family

✍ Scribed by Chiung-Mei Chen; Guey-Jen Lee-Chen; Yih-Ru Wu; Cheng-Yueh Lin; Chi-Jen Chen; I-Cheng Chen; Long-Sun Ro


Book ID
116913325
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
188 KB
Volume
118
Category
Article
ISSN
0049-3848

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A novel homozygous missense mutation in
✍ Catherine B. Grundy; Morag Chisholm; Vijay V. Kakkar; David N. Cooper πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 199 KB

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