Genetic Analysis of Jervel and Lange Nielsen Syndrome with a Novel Mutation in KCNQ1 Gene
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- 作者：Ankur Singh ; Rajniti Prasad ; Royana Singh ; Seema Kapoor…
- 刊名：The Indian Journal of Pediatrics
- 出版年：2016
- 出版时间：September 2016
- 年：2016
- 卷：83
- 期：9
- 页码：1038-1039
- 全文大小：388 KB
- 参考文献：1.Winbo A, Stattin EL, Nordin C, et al. Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families. BMC Cardiovasc Disord. 2014;14:22.CrossRef PubMed PubMedCentral
2.Al-Aama JY, Al-Ghamdi S, Bdier AY, et al. Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia. Clin Genet. 2015;87:74–9.CrossRef PubMed
3.Novotny T, Kadlecova J, Janousek J, et al. The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. Pacing Clin Electrophysiol. 2006;29:1013–5.CrossRef PubMed
4.Bhuiyan ZA, Momenah TS, Amin AS, et al. An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome. Prog Biophys Mol Biol. 2008;98:319–27.CrossRef PubMed - 作者单位：Ankur Singh (1)
Rajniti Prasad (1)
Royana Singh (2)
Seema Kapoor (3)
Zahurul A. Bhuiyan (4)
Om Prakash Mishra (1)
1. Genetic and Metabolic Clinic, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, 221005, India
2. Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
3. Department of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi, India
4. Molecular Diagnostic Laboratory, Service of Medical Genetics, University Hospital Lausanne (CHUV), Lausanne, Switzerland - 刊物主题：Pediatrics; Gynecology;
- 出版者：Springer India
- ISSN：0973-7693
- 卷排序：83
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