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Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene
Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and h...
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| Pubblicato in: | Indian J Nephrol |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wolters Kluwer - Medknow
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6755923/ https://ncbi.nlm.nih.gov/pubmed/31571745 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijn.IJN_175_18 |
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