Reference table (All references)
References | Year | PubMed Id |
Xia, M., Jin, Q., Bendahhou, S., He, Y., Larroque, M.-M., Chen, Y., Zhou, Q., Yang, Y., Liu, Y., Liu, B., Zhu, Q., Zhou, Y., and 12 others. A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem. Biophys. Res. Commun. 332: 1012-1019, 2005. | 2005 | |
Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet. 2012 Dec 7;91(6):1088-94. doi: 10.1016/j.ajhg.2012.09.018. Epub 2012 Nov 8. | 2012 | |
Xue YY, Cheng HL, Dong HL, Yin HM, Yuan Y, Meng LC, Wu ZY, Yu H. A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report. BMC Neurol. 2021 Oct 20;21(1):402. doi: 10.1186/s12883-021-02399-y. PMID: 34666706; PMCID: PMC8527611. | 2021 |