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A novel mutation in the SerpinC1 gene presenting as unprovoked neonatal cerebral sinus venous thrombosis in a kindred

✍ Scribed by Riten Kumar; Mahendranath Moharir; Ivanna Yau; Suzan Williams


Book ID
118285556
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
174 KB
Volume
60
Category
Article
ISSN
1545-5009

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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