The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
Prevalence of antithrombin deficiency in the healthy population
Abstract
Summary: . In a cohort of 9669 blood donors we have identified 16 cases of congenital AT deficiency (1 in 600) by way of family studies and AT gene analysis. Two donors had type I AT deficiency (prevalence 0.21 per 1000; 95% CI = 0.03/1000 to 0.75/1000), their families displaying a symptomatic phenotype. 14 donors had a type II deficiency (prevalence 1.45 per 1000; 95% CI = 0.79/1000 to 2.43/1000): one recurring and three unique mutations. None of these type II deficiencies appeared to confer a high thrombotic risk despite many of the affected individuals having experienced potentially prothrombotic challenges. The high frequency of these relatively asymptomatic variants may reflect a selection bias in the study population. However, their existence should not only add to our understanding of structure‐function relationships of AT but may also influence our management of asymptomatic deficient individuals identified in epidemiological or presurgical screening programmes.
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Cites
Inherited Antithrombin Deficiency Causing Thrombophilia
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Hereditary deficiency of antithrombin III, protein C and protein S
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Cited by
Kyrle, P. A., & Eichinger, S. (2005) · The Lancet · doi:10.1016/s0140-6736(05)71880-8 · Cited by 616
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Self-citationWhat do dysfunctional serpins tell us about molecular mobility and disease?
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Self-citationInherited antithrombin deficiency: a review
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Metadata
- Authors
- Tait, R. C., Walker, I. D., Perry, D. J., Islam, S. I. A. M., Daly, M. E., McCall, F., Conkie, J. A., & Carrell, R. W.
- Venue
- British Journal of Haematology
- Publisher
- Wiley
- Published
- 1994-05
- Volume
- 87
- Issue
- 1
- Pages
- 106-112
- ISSN
- 0007-1048 (ISSN-L)
- 1365-2141
- OpenAlex
- W1977435299
- Cited by
- 381
- References
- 12
- FWCI
- 4.32
- Type
- journal article
- Language
- en
- Open access
- closed
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- Tait, R. C., Walker, I. D., Perry, D. J., Islam, S. I. A. M., Daly, M. E., McCall, F., Conkie, J. A., & Carrell, R. W. (1994). Prevalence of antithrombin deficiency in the healthy population. British Journal of Haematology. https://doi.org/10.1111/j.1365-2141.1994.tb04878.x
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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