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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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| Publicado no: | World J Clin Cases |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Baishideng Publishing Group Inc
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6656681/ https://ncbi.nlm.nih.gov/pubmed/31363482 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12998/wjcc.v7.i12.1522 |
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