Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Stella W.S. Lai"'
Autor:
Jackie Crawford, Jonathan R. Skinner, Stella W.S. Lai, Donald R. Love, Debra O. Prosser, Ivone U. S. Leong, Mandy Graham, Philippa A. Dryland, Martin K. Stiles
Publikováno v:
Journal of Clinical Medicine Research. 9:709-718
Background: Approximately 75% of clinically definite long QT syndrome (LQTS) cases are caused by mutations in the KCNQ1 , KCNH2 and SCN5A genes. Of these mutations, a small proportion (3.2-9.2%) are predicted to affect splicing. These mutations prese
Autor:
Chuan-Ching Lan, Jennifer M. Love, Donald R. Love, Renate Marquis-Nicholson, Jonathan R. Skinner, Elaine Doherty, Stella W.S. Lai
Publikováno v:
Latest Research into Quality Control
Long QT syndrome is a rare disorder of cardiac ion channels, characterised by a prolonged QT interval and T-wave abnormalities on electrocardiogram (ECG) and the occurrence of the ventricular tachycardia torsade de pointes. Sodium, potassium or calci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56fd3dc084d6d74f820c5e85b7981fd2
http://www.intechopen.com/articles/show/title/postmortem-dna-qc-considerations-for-sequence-and-dosage-analysis-of-genes-implicated-in-long-qt-syn
http://www.intechopen.com/articles/show/title/postmortem-dna-qc-considerations-for-sequence-and-dosage-analysis-of-genes-implicated-in-long-qt-syn
Publikováno v:
Pathology. 48:S96
Publikováno v:
Pathology. 48:S96
Autor:
Stella W.S. Lai, Elaine Doherty, Donald R. Love, Debra O. Prosser, Rebecca M. Lopes, Rongying Tang
Publikováno v:
Journal of Biomedical Engineering and Informatics. 2:91
With the significant progress in sequencing technologies over the last 10 years, a concomitant increase in the detection of variants of uncertain significance (VUSs) has been reported with an increasing amount of data. The interpretation of VUSs has