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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
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
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