Genetic Analysis of Jervel and Lange Nielsen Syndrome with a Novel Mutation in KCNQ1 Gene.

作者信息

Singh Ankur, Prasad Rajniti, Singh Royana, Kapoor Seema, Bhuiyan Zahurul A, Mishra Om Prakash

机构信息

Genetic and Metabolic Clinic, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, 221005, India.

Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.

出版信息

Indian J Pediatr. 2016 Sep;83(9):1038-9. doi: 10.1007/s12098-016-2072-8. Epub 2016 Mar 4.

DOI:10.1007/s12098-016-2072-8

PMID:26939673

Abstract

摘要

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Genetic Analysis of Jervel and Lange Nielsen Syndrome with a Novel Mutation in KCNQ1 Gene.

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本文引用的文献

Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.一种常见长 QT 综合征突变的表型、起源和估计患病率：包括瑞典 R518X/KCNQ1 家族在内的临床、谱系和分子遗传学研究。

BMC Cardiovasc Disord. 2014 Feb 19;14:22. doi: 10.1186/1471-2261-14-22.

Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.沙特阿拉伯六个家庭中杰韦尔和朗格-尼尔森综合征的基因型-表型分析。

Clin Genet. 2015;87(1):74-9. doi: 10.1111/cge.12330. Epub 2013 Dec 27.

An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.导致KCNQ1基因中外显子2不完全跳跃的内含子突变可挽救Jervell和Lange-Nielsen综合征患者的听力。

Prog Biophys Mol Biol. 2008 Oct-Nov;98(2-3):319-27. doi: 10.1016/j.pbiomolbio.2008.10.004. Epub 2008 Nov 5.

The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome.与隐性罗曼诺-沃德综合征相关的纯合KCNQ1基因突变。

Pacing Clin Electrophysiol. 2006 Sep;29(9):1013-5. doi: 10.1111/j.1540-8159.2006.00478.x.

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