Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange‐Nielsen syndrome in 2 Iranian families

Jervell‐Lange Nielsen syndrome (JLNS) with autosomal recessive inheritance is a congenital cardiovascular disorder characterized by prolongation of QT interval on the ECG and deafness. We have performed molecular investigation by haplotype analysis and DNA Sanger sequencing in 2 unrelated Iranian fa...

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Vydáno v:J Arrhythm
Hlavní autoři: Amirian, Azam, Zafari, Zahra, Dalili, Mohammad, Saber, Siamak, Karimipoor, Morteza, Dabbagh Bagheri, Samira, Fazelifar, Amir Farjam, Zeinali, Sirous
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2018
Témata:
Case Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6010008/
https://ncbi.nlm.nih.gov/pubmed/29951145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/joa3.12042
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