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27. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene. Wang D; Wu B; Li Y; Heng W; Zhong H; Mu Y; Wang J J Hum Genet; 2001; 46(3):152-4. PubMed ID: 11310584 [TBL] [Abstract][Full Text] [Related]
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29. Methylmalonyl-CoA mutase induction by cerebral ischemia and neurotoxicity of the mitochondrial toxin methylmalonic acid. Narasimhan P; Sklar R; Murrell M; Swanson RA; Sharp FR J Neurosci; 1996 Nov; 16(22):7336-46. PubMed ID: 8929440 [TBL] [Abstract][Full Text] [Related]
30. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. Martínez MA; Rincón A; Desviat LR; Merinero B; Ugarte M; Pérez B Mol Genet Metab; 2005 Apr; 84(4):317-25. PubMed ID: 15781192 [TBL] [Abstract][Full Text] [Related]
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34. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Bikker H; Bakker HD; Abeling NG; Poll-The BT; Kleijer WJ; Rosenblatt DS; Waterham HR; Wanders RJ; Duran M Hum Mutat; 2006 Jul; 27(7):640-3. PubMed ID: 16752391 [TBL] [Abstract][Full Text] [Related]
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39. Restriction fragment length polymorphisms at the methylmalonyl CoA mutase locus in normal Chinese. Wang TR; Hou JW; Tsai HM Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1990; 31(5):275-9. PubMed ID: 1979711 [TBL] [Abstract][Full Text] [Related]
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