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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L; CAUSES Study; van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB. Duncan AR, et al. Among authors: jentsch tj. Am J Hum Genet. 2021 Aug 5;108(8):1450-1465. doi: 10.1016/j.ajhg.2021.06.003. Epub 2021 Jun 28. Am J Hum Genet. 2021. PMID: 34186028 Free PMC article.
Myotonias due to CLC-1 chloride channel mutations.
Jentsch TJ, Lorenz C, Pusch M, Steinmeyer K. Jentsch TJ, et al. Soc Gen Physiol Ser. 1995;50:149-59. Soc Gen Physiol Ser. 1995. PMID: 7676320 Review. No abstract available.
Molecular physiology of voltage-gated chloride channels.
Pusch M, Jentsch TJ. Pusch M, et al. Among authors: jentsch tj. Physiol Rev. 1994 Oct;74(4):813-27. doi: 10.1152/physrev.1994.74.4.813. Physiol Rev. 1994. PMID: 7938226 Review. No abstract available.
229 results