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Large Deletion in KCNQ1 Identified in a Family with Jervell and Lange-Nielsen Syndrome
Long QT syndrome (LQTS) is a genetically heterogeneous disorder associated with sequence variations in more than 10 genes; in some cases, it is caused by large deletions or duplications among the main, known LQTS-associated genes. Here, we describe a 14-month-old Korean boy with congenital hearing l...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
The Korean Society for Laboratory Medicine
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4151011/ https://ncbi.nlm.nih.gov/pubmed/25187895 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2014.34.5.395 |
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