Novel frameshift mutation in the <i>KCNQ1</i> gene responsible for Jervell and Lange-Nielsen syndrome.
| Author | |
|---|---|
| Abstract |
:
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. |
| Year of Publication |
:
2018
|
| Journal |
:
Iranian journal of basic medical sciences
|
| Volume |
:
21
|
| Issue |
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1
|
| Number of Pages |
:
108-111
|
| ISSN Number |
:
2008-3866
|
| DOI |
:
10.22038/IJBMS.2017.23207.5908
|
| Short Title |
:
Iran J Basic Med Sci
|
| Download citation |
