Academic Journal
Prothrombin Saint‐Denis: a natural variant with a point mutation resulting in Asp to Glu substitution at position 552 in prothrombin
| العنوان: | Prothrombin Saint‐Denis: a natural variant with a point mutation resulting in Asp to Glu substitution at position 552 in prothrombin |
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| المؤلفون: | Rouy, Stanislas, Vidaud, Dominique, Alessandri, Jean‐Luc, Dautzenberg, Marie‐Dominique, Venisse, Laurence, Guillin, Marie‐Claude, Bezeaud, Annie |
| المصدر: | British Journal of Haematology ; volume 132, issue 6, page 770-773 ; ISSN 0007-1048 1365-2141 |
| بيانات النشر: | Wiley |
| سنة النشر: | 2006 |
| المجموعة: | Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: | Summary A new prothrombin variant, with a point mutation at nucleotide 20 029 resulting in Asp 552 to Glu substitution (prothrombin numbering), has been identified in a male newborn. Plasma prothrombin level was <3%, 16% and 60% when measured by clotting, chromogenic and immunological assays respectively. The substitution did not affect the rate of prothrombin conversion to thrombin but altered thrombin activity. Amino acid 552 has been reported to be involved in the allosteric transition, which is induced by sodium binding to thrombin. This is the first known amino acid substitution at this site to result in dysprothrombinaemia. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1111/j.1365-2141.2005.05920.x |
| الاتاحة: | http://dx.doi.org/10.1111/j.1365-2141.2005.05920.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2141.2005.05920.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2141.2005.05920.x |
| Rights: | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| رقم الانضمام: | edsbas.E78208D0 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/j.1365-2141.2005.05920.x |
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