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Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive disorder and mild variant of classic Bartter syndrome. The latter is caused by defects in the genes CLCNKB and/or CLCNKA (chloride voltage-gated channel Ka and Kb). Patients with GS usually have loss-of-function mutations in SLC12A3. No pa...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6471809/ https://www.ncbi.nlm.nih.gov/pubmed/30999883 http://dx.doi.org/10.1186/s12887-019-1498-3 |