Long QT syndrome : the identification and verification of putative KCNE2-interacting proteins

Autor: Neethling, Annika

Thesis (MScMedSc)-- Stellenbosch University, 2013.
ENGLISH ABSTRACT: Long QT syndrome (LQTS) is a cardiac repolarization disorder affecting every 1:2000-1:3000 individuals. This disease is characterized by a prolonged QT interval on the surface

Externí odkaz: http://hdl.handle.net/10019.1/85718

Additional file 1: of Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa

Autor: Kinnear, Craig, Glanzmann, Brigitte, Banda, Eric, Schlechter, Nikola, Durrheim, Glenda, Neethling, Annika, Nel, Etienne, Mardelle Schoeman, Johnson, Glynis, Helden, Paul Van, Hoal, Eileen, Esser, Monika, Urban, Michael, Mรถller, Marlo

Supplementary Tables. (DOCX 13 kb)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::651e18d3fdd026c1cd1a3286d1568c35

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Underappreciated Roles of the Translocase of the Outer and Inner Mitochondrial Membrane Protein Complexes in Human Disease.

Autor: Heinemeyer T; Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University , Cape Town, South Africa ., Stemmet M; Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University , Cape Town, South Africa ., Bardien S; Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University , Cape Town, South Africa ., Neethling A; Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University , Cape Town, South Africa .

Publikováno v: DNA and cell biology [DNA Cell Biol] 2019 Jan; Vol. 38 (1), pp. 23-40. Date of Electronic Publication: 2018 Nov 27.