<> <http://www.w3.org/2000/01/rdf-schema#comment> "The repository administrator has not yet configured an RDF license."^^<http://www.w3.org/2001/XMLSchema#string> .
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<https://discovery.ucl.ac.uk/id/eprint/10113040> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Article> .
<https://discovery.ucl.ac.uk/id/eprint/10113040> <http://purl.org/dc/terms/title> "Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10113040> <http://purl.org/ontology/bibo/abstract> "Background: The aim of this study is to report on the genetic composition of Brugada\r\nsyndrome (BrS) patients undergoing genetic testing in Hong Kong.\r\nMethods: Patients with suspected BrS who presented to the Hospital Authority of\r\nHong Kong between 1997 and 2019, and underwent genetic testing, were analyzed\r\nretrospectively.\r\nResults: A total of 65 subjects were included (n = 65, 88% male, median presenting age\r\n42 [30–54] years old, 58% type 1 pattern). Twenty-two subjects (34%) showed abnormal\r\ngenetic test results, identifying the following six novel, pathogenic or likely pathogenic\r\nmutations in SCN5A: c.674G > A, c.2024-11T > A, c.2042A > C, c.4279G > T,\r\nc.5689C > T, c.429del. Twenty subjects (31%) in the cohort suffered from spontaneous\r\nventricular tachycardia/ventricular fibrillation (VT/VF) and 18 (28%) had incident VT/VF\r\nover a median follow-up of 83 [Q1–Q3: 52–112] months. Univariate Cox regression\r\ndemonstrated that syncope (hazard ratio [HR]: 4.27 [0.95–19.30]; P = 0.059), prior\r\nVT/VF (HR: 21.34 [5.74–79.31; P < 0.0001) and T-wave axis (HR: 0.970 [0.944–\r\n0.998]; P = 0.036) achieved P < 0.10 for predicting incident VT/VF. After multivariate\r\nadjustment, only prior VT/VF remained a significant predictor (HR: 12.39 [2.97–51.67],\r\nP = 0.001).\r\nConclusion: This study identified novel mutations in SCN5A in a Chinese cohort\r\nof BrS patients"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10113040> <http://purl.org/dc/terms/date> "2020-09-18" .
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