✦ LIBER ✦

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L inKCNH2

✍ Scribed by Christiansen, Michael; Hedley, Paula L; Theilade, Juliane; Stoevring, Birgitte; Leren, Trond P; Eschen, Ole; Sørensen, Karina M; Tybjærg-Hansen, Anne; Ousager, Lilian B; Pedersen, Lisbeth N; Frikke-Schmidt, Ruth; Aidt, Frederik H; Hansen, Michael G; Hansen, Jim; Bloch Thomsen, Poul E; Toft, Egon; Henriksen, Finn L; Bundgaard, Henning; Jensen, Henrik K; Kanters, Jørgen K

Book ID: 125398563
Publisher: BioMed Central
Year: 2014
Tongue: English
Weight: 278 KB
Volume: 15
Category: Article
ISSN: 1471-2350
DOI: 10.1186/1471-2350-15-31

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of a novel KCNQ1 mutation

Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications

✍ ZMA Shinwari; A Al-Hazzani; N Dzimiri; S Tulbah; Y Mallawi; M Al-Fayyadh; ZN Al- 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 530 KB

Sodium channel abnormalities are infrequ

Sodium channel abnormalities are infrequent in patients with long QT Syndrome: Identification of two novelSCN5A mutations

✍ Wattanasirichaigoon, Duangrurdee; Vesely, Mark R.; Duggal, Priya; Levine, Jami C 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 59 KB 👁 2 views

Long QT syndrome (LQTS) is a heterogeneous disorder caused by mutations of at least five different loci. Three of these, LQT1, LQT2, and LQT5, encode potassium channel subunits. LQT3 encodes the cardiac-specific sodium channel, SCN5A. Previously reported LQTS-associated mutations of SCN5A include a

Identification of large gene deletions a

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

✍ C. Eddy; J. M. Maccormick; S. Chung; J. R. Crawford; D. R. Love; M. I. Rees; J. 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 967 KB

New RAB3GAP1 mutations in patients with

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

✍ Morris-Rosendahl, Deborah J; Segel, Reeval; Born, A Peter; Conrad, Christoph; Lo 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 740 KB

Spectrum of pathogenic mutations and ass

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome

✍ G Millat; P Chevalier; L Restier-Miron; A Da Costa; P Bouvagnet; B Kugener; L Fa 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 475 KB

Identification of two new mutations in t

Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II

✍ S.M. Pasternack; R.C. Betz; F. Brandrup; E.F. Gade; O. Clemmensen; A.M. Lund; E. 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 310 KB