✦ LIBER ✦

Mutations in the hminK gene cause long QT syndrome and suppress lKs function

✍ Scribed by Splawski, Igor; Tristani-Firouzi, Martin; Lehmann, Michael H.; Sanguinetti, Michael C.; Keating, Mark T.

Book ID: 109918664
Publisher: Nature Publishing Group
Year: 1997
Tongue: English
Weight: 414 KB
Volume: 17
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1197-338

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Loss-of-function mutations of the K+ cha

Loss-of-function mutations of the K+ channel gene KCNJ2 constitute a rare cause of long QT syndrome

✍ Heidi Fodstad; Heikki Swan; Muriel Auberson; Ivan Gautschi; Johannes Loffing; La 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 572 KB

Disease-Causing Polymorphisms in the Spe

Disease-Causing Polymorphisms in the Spectrum of Long QT Syndrome Mutations

✍ Elizabeth S. Kaufman 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 122 KB

Recurrent and Founder Mutations in the N

Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome

✍ N. Hofman; R. Jongbloed; P. G. Postema; E. Nannenberg; M. Alders; A. A. M. Wilde 📂 Article 📅 2010 🏛 Bohn Stafleu van Loghum 🌐 English ⚖ 259 KB

Novel missense mutation in the cyclic nu

Novel missense mutation in the cyclic nucleotide-binding domain ofHERG causes long QT syndrome

✍ Satler, Carol Ann; Walsh, Edward P.; Vesely, Mark R.; Plummer, Mark H.; Ginsburg 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 917 KB

Mutations in the G6PC3 gene cause Dursun

Mutations in the G6PC3 gene cause Dursun syndrome

✍ Siddharth Banka; William G. Newman; R. Koksal Özgül; Ali Dursun 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 129 KB 👁 1 views

## Abstract Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. Here we demonstrate that mutations in __G6PC3__ cause Dursun syndrome. Mutations in __G6PC3__ are known to also cause severe congenital neutropenia type 4. Identification of the

THE MOLECULAR GENETICS OF THE LONG QT SY

THE MOLECULAR GENETICS OF THE LONG QT SYNDROME: GENES CAUSING FAINTING AND SUDDEN DEATH

✍ Vincent, MD, G. Michael 📂 Article 📅 1998 🏛 Annual Reviews 🌐 English ⚖ 108 KB