✦ LIBER ✦

A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype

✍ Scribed by Eric Schulze-Bahr; Martin Schwarz; Susanne Hoffmann; Horst Wedekind; Harald Funke; Wilhelm Haverkamp; Günter Breithardt; Olaf Pongs; Dirk Isbrandt

Publisher: Springer
Year: 2001
Tongue: English
Weight: 107 KB
Volume: 79
Category: Article
ISSN: 0946-2716
DOI: 10.1007/s001090100249

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Erratum to: A novel long-QT 5 gene mutat

Erratum to: A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype

✍ Eric Schulze-Bahr; Martin Schwarz; Susan Hauenschild; Horst Wedekind; Harald Fun 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 9 KB

Clinical and electrophysiological charac

Clinical and electrophysiological characterization of a novel mutation R863X in HERG C-terminus associated with long QT syndrome

✍ Siyong Teng; Lijuan Ma; Yingxue Dong; Chunxia Lin; Jue Ye; Robert Bähring; Vitya 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 306 KB

A novel mutation in exon b (R259C) of th

A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy

✍ Andrew Donnelly; Eric Haan; James Manson; John Mulley 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB 👁 2 views

The genetic basis of the relatively mild myopathic symptoms exhibited in a male was investigated. Mutation screening of a candidate gene, MTM1, represented a chance of establishing the molecular defect and the mode of inheritance. SSCA detected variation of the exon b PCR products from the proband a

A novel mutation in the X-linked cyclin-

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype

✍ T. Sprovieri; F.L. Conforti; A. Fiumara; R. Mazzei; C. Ungaro; L. Citrigno; M. M 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 91 KB 👁 2 views

The long QT syndrome: a novel missense m

The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene

✍ M. H. van den Berg; Arthur A. M Wilde; E. O. Robles de Medina; Henk Meyer; J. L. 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 66 KB

A novel mutation, Arg71Thr, in the δ-sar

A novel mutation, Arg71Thr, in the δ-sarcoglycan gene is associated with dilated cardiomyopathy

✍ Satu Kärkkäinen; Raija Miettinen; Petri Tuomainen; Päivi Kärkkäinen; Tiina Heliö 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 219 KB