✦ LIBER ✦

O14-03 Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen syndrome

✍ Scribed by Jiuann-Huey Lin; Yadavendra S. Rajawat; Chun-Wei Lu; Henry Jerng; Tapam G. Ramie; Geoffrey Millers; Hua Lib; Ming-Tai Lin; Paul J. Pfaffinger; Neil E. Bowles; Dirar S. Khoury; Jeffrey A. Towbin

Book ID: 117352614
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 98 KB
Volume: 97
Category: Article
ISSN: 0167-5273
DOI: 10.1016/s0167-5273(04)80144-x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Function, subcellular localization and a

Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen’s syndrome

✍ Yukio Hosaka; Haruo Hanawa; Takashi Washizuka; Masaomi Chinushi; Fumio Yamashita 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 370 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

Functional characterization of a haploty

Functional characterization of a haplotype in theAKT1gene associated with glucose homeostasis and metabolic syndrome

✍ Brennan T. Harmon; Stephanie A. Devaney; Heather Gordish-Dressman; Erica K. Reev 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 513 KB

Functional Characterization of a Novel M

Functional Characterization of a Novel Mutation in KCNA1 in Episodic Ataxia Type 1 Associated with Epilepsy

✍ ALEXANDER SPAUSCHUS; LOUISE EUNSON; MICHAEL G. HANNA; DIMITRI M. KULLMANN 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB

CHARACTERIZATION OF COMPOUND HETEROZYGOS

CHARACTERIZATION OF COMPOUND HETEROZYGOSITY FOR MUTATIONS R269W IN KCNH2 AND P1824A IN SCN5A ASSOCIATED WITH LONG QT SYNDROME AND SINUS NODE DYSFUNCTION

✍ Kenshi Hayashi; Noboru Fujino; Katsuharu Uchiyama; Tetsuo Konno; Akihiko Hodatsu 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 193 KB

Clinical presentation of diabetes associ

Clinical presentation of diabetes associated with a mutation in the mitochondrial DNA: J.J. Jansen1, C.F.A. Rutten1, L.M.'t Hart2, J.A. Maassen2, H.H.P.J. Lemkes1. 1Departments of Metabolic Diseases and Endocrinology and 2Medical Biochemistry, University Hospital Leiden, P.O. Box 9600, 2300 RC Leiden, Netherlands

✍ Jansen, J 📂 Article 📅 1995 🏛 Elsevier Science 🌐 English ⚖ 114 KB