Matches in SemOpenAlex for { <https://semopenalex.org/work/W2166156877> ?p ?o ?g. }
- W2166156877 endingPage "139" @default.
- W2166156877 startingPage "130" @default.
- W2166156877 abstract "Summary 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. SERPINC 1 gene sequencing was offered to subjects who did not already have the test performed. Molecular modelling and stability simulations were performed for the novel mutations identified. Twenty‐nine subjects from 18 pedigrees were identified. Mean age (± standard deviation) at diagnosis and mean duration of follow‐up were 8·4 (± 6·6) years and 6·6 (± 5·7) years respectively. Most recent mean AT activity and AT antigen levels ( n = 20) were 0·53 (± 0·09) iu/ml and 0·60 (± 0·17) iu/ml respectively. Ten subjects were diagnosed secondary to low AT activity measured following venous thrombo‐embolism ( VTE ). All 10 subjects had additional risk factors at the time of VTE . None of the 19 subjects diagnosed with AT deficiency in the setting of positive family history have had VTE with 7·4 (± 5·8) years follow‐up. Mutation analysis has been completed on 19 subjects from 16 pedigrees. Nine unique mutations, including 4 novel mutations were identified." @default.
- W2166156877 created "2016-06-24" @default.
- W2166156877 creator A5004205333 @default.
- W2166156877 creator A5029639633 @default.
- W2166156877 creator A5037978171 @default.
- W2166156877 creator A5070607078 @default.
- W2166156877 creator A5078175239 @default.
- W2166156877 creator A5087683429 @default.
- W2166156877 date "2014-03-29" @default.
- W2166156877 modified "2023-10-04" @default.
- W2166156877 title "Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study" @default.
- W2166156877 cites W102799458 @default.
- W2166156877 cites W1523598805 @default.
- W2166156877 cites W1589961922 @default.
- W2166156877 cites W1906898575 @default.
- W2166156877 cites W1967025628 @default.
- W2166156877 cites W1977435299 @default.
- W2166156877 cites W1977600936 @default.
- W2166156877 cites W198143757 @default.
- W2166156877 cites W1983223146 @default.
- W2166156877 cites W1985664799 @default.
- W2166156877 cites W1986339220 @default.
- W2166156877 cites W1989202013 @default.
- W2166156877 cites W1990909853 @default.
- W2166156877 cites W1990941802 @default.
- W2166156877 cites W1991119272 @default.
- W2166156877 cites W1996644639 @default.
- W2166156877 cites W1998397662 @default.
- W2166156877 cites W1999361503 @default.
- W2166156877 cites W2014403253 @default.
- W2166156877 cites W2018974472 @default.
- W2166156877 cites W2022132254 @default.
- W2166156877 cites W2029524694 @default.
- W2166156877 cites W2029582401 @default.
- W2166156877 cites W2029931554 @default.
- W2166156877 cites W2062322376 @default.
- W2166156877 cites W2086372522 @default.
- W2166156877 cites W2090265783 @default.
- W2166156877 cites W2093218725 @default.
- W2166156877 cites W2099796420 @default.
- W2166156877 cites W2102019153 @default.
- W2166156877 cites W2104315137 @default.
- W2166156877 cites W2108842802 @default.
- W2166156877 cites W2112180675 @default.
- W2166156877 cites W2115509671 @default.
- W2166156877 cites W2140069482 @default.
- W2166156877 cites W2153457180 @default.
- W2166156877 cites W2157633587 @default.
- W2166156877 cites W2164595241 @default.
- W2166156877 cites W2168507148 @default.
- W2166156877 cites W2168778823 @default.
- W2166156877 cites W2272401759 @default.
- W2166156877 cites W2296953840 @default.
- W2166156877 cites W2413432823 @default.
- W2166156877 doi "https://doi.org/10.1111/bjh.12842" @default.
- W2166156877 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24684277" @default.
- W2166156877 hasPublicationYear "2014" @default.
- W2166156877 type Work @default.
- W2166156877 sameAs 2166156877 @default.
- W2166156877 citedByCount "15" @default.
- W2166156877 countsByYear W21661568772014 @default.
- W2166156877 countsByYear W21661568772016 @default.
- W2166156877 countsByYear W21661568772017 @default.
- W2166156877 countsByYear W21661568772019 @default.
- W2166156877 countsByYear W21661568772020 @default.
- W2166156877 countsByYear W21661568772021 @default.
- W2166156877 countsByYear W21661568772022 @default.
- W2166156877 countsByYear W21661568772023 @default.
- W2166156877 crossrefType "journal-article" @default.
- W2166156877 hasAuthorship W2166156877A5004205333 @default.
- W2166156877 hasAuthorship W2166156877A5029639633 @default.
- W2166156877 hasAuthorship W2166156877A5037978171 @default.
- W2166156877 hasAuthorship W2166156877A5070607078 @default.
- W2166156877 hasAuthorship W2166156877A5078175239 @default.
- W2166156877 hasAuthorship W2166156877A5087683429 @default.
- W2166156877 hasConcept C104317684 @default.
- W2166156877 hasConcept C126322002 @default.
- W2166156877 hasConcept C187212893 @default.
- W2166156877 hasConcept C201903717 @default.
- W2166156877 hasConcept C22593422 @default.
- W2166156877 hasConcept C2777557582 @default.
- W2166156877 hasConcept C2778432500 @default.
- W2166156877 hasConcept C2779026020 @default.
- W2166156877 hasConcept C2781179581 @default.
- W2166156877 hasConcept C54355233 @default.
- W2166156877 hasConcept C71924100 @default.
- W2166156877 hasConcept C72563966 @default.
- W2166156877 hasConcept C86803240 @default.
- W2166156877 hasConceptScore W2166156877C104317684 @default.
- W2166156877 hasConceptScore W2166156877C126322002 @default.
- W2166156877 hasConceptScore W2166156877C187212893 @default.
- W2166156877 hasConceptScore W2166156877C201903717 @default.
- W2166156877 hasConceptScore W2166156877C22593422 @default.
- W2166156877 hasConceptScore W2166156877C2777557582 @default.
- W2166156877 hasConceptScore W2166156877C2778432500 @default.
- W2166156877 hasConceptScore W2166156877C2779026020 @default.
- W2166156877 hasConceptScore W2166156877C2781179581 @default.
- W2166156877 hasConceptScore W2166156877C54355233 @default.