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Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.
Wang ZQ, Chen XJ, Murong SX, Wang N, Wu ZY. Wang ZQ, et al. J Mol Med (Berl). 2011 Jun;89(6):569-76. doi: 10.1007/s00109-011-0725-7. Epub 2011 Feb 24. J Mol Med (Berl). 2011. PMID: 21347544
Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.
Wu ZY, Zhao GX, Chen WJ, Wang N, Wan B, Lin MT, Murong SX, Yu L. Wu ZY, et al. J Mol Med (Berl). 2006 May;84(5):438-42. doi: 10.1007/s00109-005-0036-y. Epub 2006 Jan 28. J Mol Med (Berl). 2006. PMID: 16649058
A genome-wide association study reveals association between common variants in an intergenic region of 4q25 and high-grade myopia in the Chinese Han population.
Li Z, Qu J, Xu X, Zhou X, Zou H, Wang N, Li T, Hu X, Zhao Q, Chen P, Li W, Huang K, Yang J, He Z, Ji J, Wang T, Li J, Li Y, Liu J, Zeng Z, Feng G, He L, Shi Y. Li Z, et al. Hum Mol Genet. 2011 Jul 15;20(14):2861-8. doi: 10.1093/hmg/ddr169. Epub 2011 Apr 19. Hum Mol Genet. 2011. PMID: 21505071 Clinical Trial.
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY. Chen WJ, et al. Nat Genet. 2011 Nov 20;43(12):1252-5. doi: 10.1038/ng.1008. Nat Genet. 2011. PMID: 22101681
Value of muscle enzyme measurement in evaluating different neuromuscular diseases.
Zhang Y, Huang JJ, Wang ZQ, Wang N, Wu ZY. Zhang Y, et al. Clin Chim Acta. 2012 Feb 18;413(3-4):520-4. doi: 10.1016/j.cca.2011.11.016. Epub 2011 Nov 25. Clin Chim Acta. 2012. PMID: 22137979
Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing.
Chen WJ, Lin QF, Zhang QJ, He J, Liu XY, Lin MT, Murong SX, Liou CW, Wang N. Chen WJ, et al. Clin Chim Acta. 2013 Aug 23;423:35-8. doi: 10.1016/j.cca.2013.04.006. Epub 2013 Apr 13. Clin Chim Acta. 2013. PMID: 23588064
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