Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous mar...
| Hlavní autoři: | , , , , , , , |
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| Médium: | Článek |
| Jazyk: | English |
| Vydáno: |
Mashhad University of Medical Sciences
2018-01-01
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| Edice: | Iranian Journal of Basic Medical Sciences |
| Témata: | |
| On-line přístup: | http://ijbms.mums.ac.ir/article_9900_af4ea92404f64e2b7beb535b3c832e8b.pdf |