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Gene diagnosis for long OT syndrome
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创建时间：
2023-08-29
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Table2_A mild phenotype associated with KCNQ1 p.V205M mediated long QT syndrome in First Nations children of Northern British Columbia: effect of additional variants and considerations for management.docx
IntroductionCongenital Long QT Syndrome (LQTS) is common in a First Nations community in Northern British Columbia due to the founder variant KCNQ1 p.V205M. Although well characterized molecularly and
NIAID Data Ecosystem10
Homo sapiens Exome. Homo sapiens
our study reported three novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome, which expanded the LQTS genetic spectrum,
NIAID Data Ecosystem00
Table2_A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.xlsx
hERG, the pore-forming subunit of the rapid component of the delayed rectifier K+ current, plays a key role in ventricular repolarization. Mutations in the KCNH2 gene encoding hERG are associated with
NIAID Data Ecosystem10
Table1_A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.XLSX
hERG, the pore-forming subunit of the rapid component of the delayed rectifier K+ current, plays a key role in ventricular repolarization. Mutations in the KCNH2 gene encoding hERG are associated with
NIAID Data Ecosystem10
