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Updated: Feb 24, 2026

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
11:33

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Published on: March 12, 2013

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与SeSAME综合征相关的KCNJ10基因中的新突变:罕见疾病,可能存在常见突变

Shayan Shakeri1, Sanaz Mohammadi2, Forough Sadeghipour2

  • 1Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

Molecular genetics & genomic medicine
|February 22, 2026
PubMed
概括

在患有SeSAME综合征的伊朗家庭中发现了两种新的KCNJ10基因突变,扩大了已知的突变谱,并为这种疾病的基因型-表型相关性提供了洞察力.

关键词:
这就是EAST综合征.KCNJ10 美国国家航空公司这就是SeSAME综合征.整体外体组序列化 (WES) 是一种全外体组序列化.

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