Novel heterozygous mutation of SLC12A3 gene in Gitelman syndrome
QJM: An International Journal of Medicine, ISSN: 1460-2393, Vol: 114, Issue: 7, Page: 513-515
2021
- 3Citations
Metric Options: CountsSelecting the 1-year or 3-year option will change the metrics count to percentiles, illustrating how an article or review compares to other articles or reviews within the selected time period in the same journal. Selecting the 1-year option compares the metrics against other articles/reviews that were also published in the same calendar year. Selecting the 3-year option compares the metrics against other articles/reviews that were also published in the same calendar year plus the two years prior.
Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
Citation Benchmarking is provided by Scopus and SciVal and is different from the metrics context provided by PlumX Metrics.
Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
Citation Benchmarking is provided by Scopus and SciVal and is different from the metrics context provided by PlumX Metrics.
Metrics Details
- Citations3
- Citation Indexes3
Article Description
This study identified two new variants in the SLC12A3 gene [c.976 (exon8) de1G and c.506-1G A (IVS3)] in an Asian family with GS. The patient's clinical manifestations, laboratory results and genetic characteristics were analysed. For suspected cases of GS, genetic screening of their family should be considered. Early genetic and clinical diagnosis, genetic counselling, therapeutic intervention and long-Term follow-up can significantly improve the quality of life of GS patients.
Bibliographic Details
Oxford University Press (OUP)
Provide Feedback
Have ideas for a new metric? Would you like to see something else here?Let us know