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Mutational and Phenotypic Spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome
KCNE1 encodes a regulatory subunit of the KCNQ1 potassium channel-complex. Both KCNE1 and KCNQ1 are necessary for normal hearing and cardiac ventricular repolarization. Recessive variants in these genes are associated with Jervell and Lange-Nielson syndrome (JLNS1 and JLNS2), a cardio-auditory syndr...
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| I publikationen: | Hum Mutat |
|---|---|
| Huvudupphovsmän: | , , , , , , , , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2018
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6328321/ https://ncbi.nlm.nih.gov/pubmed/30461122 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23689 |
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