Genotype-phenotype correlations ofKCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome-Reference-Cited by-同舟云学术

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Genotype-phenotype correlations ofKCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome

Published:2007 Issue:2 Volume:28 Page:208-208
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Haruna Yoshisumi,Kobori Atsushi,Makiyama Takeru,Yoshida Hidetada,Akao Masaharu,Doi Takahiro,Tsuji Keiko,Ono Seiko,Nishio Yukiko,Shimizu Wataru,Inoue Takehiko,Murakami Tomoaki,Tsuboi Naoya,Yamanouchi Hideo,Ushinohama Hiroya,Nakamura Yoshihide,Yoshinaga Masao,Horigome Hitoshi,Aizawa Yoshifusa,Kita Toru,Horie Minoru

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 61 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotypic Variability of Andersen–Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene—A New Family Case Report;Biomolecules;2024-04-22

2. Extracellular Kir2.1 ^C122Y Mutant Upsets Kir2.1-PIP ₂ Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome;Circulation Research;2024-04-12

3. Andersen-Tawil syndrome;Handbook of Clinical Neurology;2024

4. Extracellular cysteine disulfide bond break at Cys122 disrupts PIP₂-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome;2023-06-09

5. Gene mutations in comorbidity of epilepsy and arrhythmia;Journal of Neurology;2022-11-14

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