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Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report
BACKGROUND: To screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between genotype and phenotype. CASE SUMMARY: The clinical data of the patient were collected. Peripheral blood samples were obtained to isolate...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Baishideng Publishing Group Inc
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6656681/ https://www.ncbi.nlm.nih.gov/pubmed/31363482 http://dx.doi.org/10.12998/wjcc.v7.i12.1522 |