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
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| Journal | :
Iranian journal of basic medical sciences
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| Volume | :
21
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| Issue | :
1
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| Number of Pages | :
108-111
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| ISSN Number | :
2008-3866
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| DOI | :
10.22038/IJBMS.2017.23207.5908
|
| Short Title | :
Iran J Basic Med Sci
|
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