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Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome
Recurrent mutations in the SLC12A3 gene responsible for autosomal recessive Gitelman syndrome (GS) are frequently reported, but the exact prevalence is unknown. The rapid detection of recurrent SLC12A3 mutations may help in the early diagnosis of GS. This study was aimed to investigate the prevalenc...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8363728/ https://www.ncbi.nlm.nih.gov/pubmed/34389731 http://dx.doi.org/10.1038/s41525-021-00230-8 |