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Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Kidney Int. 2018 Apr;93(4):961-967. doi: 10.1016/j.kint.2017.10.016. Epub 2018 Feb 15.
Kidney Int. 2018.
PMID: 29398133
Free article.
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
Glaudemans B, Yntema HG, San-Cristobal P, Schoots J, Pfundt R, Kamsteeg EJ, Bindels RJ, Knoers NV, Hoenderop JG, Hoefsloot LH.
Glaudemans B, et al.
Eur J Hum Genet. 2012 Mar;20(3):263-70. doi: 10.1038/ejhg.2011.189. Epub 2011 Oct 19.
Eur J Hum Genet. 2012.
PMID: 22009145
Free PMC article.
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Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome.
De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, Willems PH, Knoers NV, Bindels RJ.
De Jong JC, et al.
J Am Soc Nephrol. 2002 Jun;13(6):1442-8. doi: 10.1097/01.asn.0000017904.77985.03.
J Am Soc Nephrol. 2002.
PMID: 12039972
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