Article
Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study.
British journal of haematology - 1 Jul 2014
Kumar Riten, Chan Anthony K C, Dawson Jennifer E, Forman-Kay Julie D, Kahr Walter H A, Williams Suzan
Abstract excerpt
In this study we report the largest descriptive cohort of congenital antithrombin (AT) deficiency in children, its clinical presentation, molecular basis and genotype-phenotype correlation. Paediatric patients diagnosed with AT deficiency at two tertiary care children's hospitals over a 10-year period were retrospectively reviewed. SERPINC1 gene sequencing was offered to subjects who did not already have the test...
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