Loading...
Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree
Gitelman syndrome (GS) and Bartter syndrome (BS) type III are both rare, recessively inherited salt-losing tubulopathies caused by SLC12A3 and CLCNKB mutations, respectively. We described a 48-year-old male patient with fatigue, carpopedal spasm, arthralgia, hypokalemic alkalosis, mild renal dysfunc...
Na minha lista:
| Udgivet i: | Genes (Basel) |
|---|---|
| Main Authors: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
MDPI
2021
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7999423/ https://ncbi.nlm.nih.gov/pubmed/33807568 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12030369 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|