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The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis
Gitelman syndrome is a salt-losing tubular disorder that is transmitted as an autosomal recessive trait. Variants in the SLC12A3 gene are found in the majority of Gitelman syndrome patients. A 26-year-old woman visited the genetic counseling clinic. Her fiancé was a known Gitelman syndrome patient w...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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S. Karger AG
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8339508/ https://www.ncbi.nlm.nih.gov/pubmed/34414213 http://dx.doi.org/10.1159/000517139 |