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...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , , |
|---|---|
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Mashhad University of Medical Sciences
2018-01-01
|
| Seri Bilgileri: | Iranian Journal of Basic Medical Sciences |
| Konular: | |
| Online Erişim: | http://ijbms.mums.ac.ir/article_9900_af4ea92404f64e2b7beb535b3c832e8b.pdf |
| Etiketler: |
Etiket eklenmemiş, İlk siz ekleyin!
|