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The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet AC, Germanaud D, Tejada MI, Kroes HY, Nievelstein RAJ, Brimble E, Ruzhnikov M, Claverie-Martin F, Szczepańska M, Ćuk M, Latta F, Konrad M, Martínez-Cruz LA, Bindels RJM, Hoenderop JGJ, Schlingmann KP, de Baaij JHF. Franken GAC, et al. Among authors: bindels rjm. Hum Mutat. 2021 Apr;42(4):473-486. doi: 10.1002/humu.24182. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33600043 Free PMC article.
Calcitriol controls the epithelial calcium channel in kidney.
Hoenderop JGJ, Müller D, VAN DER Kemp AWCM, Hartog A, Suzuki M, Ishibashi K, Imai M, Sweep F, Willems PHGM, Os CHV, Bindels RJM. Hoenderop JGJ, et al. Among authors: bindels rjm. J Am Soc Nephrol. 2001 Jul;12(7):1342-1349. doi: 10.1681/ASN.V1271342. J Am Soc Nephrol. 2001. PMID: 11423563
354 results