A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type Vi
Lam, C.-w.; Chan, A.O.-k.; Lai, C.-k.; Chan, W.-h.; Chan, Y.-w.; Shek, C.-c.; Tong, S.-f.
Chinese Medical Journal 117(12): 1850-1852
2004
ISSN/ISBN: 0366-6999 PMID: 15603718 Document Number: 569977
Document emailed within 1 workday
Related Documents
Zhang, G.-s.; Peng, H.-l.; Yi, Y.; Xie, D.-h.; He, X.-b. 2004: Mutation of the activin receptor-like kinase 1(ALK1) gene and the expression of plasma thrombomodulin in type-2 hereditary hemorrhagic telangiectasia: a study of a Chinese family Zhonghua Yi Xue Za Zhi 84(3): 182-185Liu, Z.; Deng, H.; Tang, W-Li. 2003: Mutation of GCK gene of Chinese patients with late-onset type 2 diabetes Hunan Yi Ke Da Xue Xue Bao 28(2): 99-101
Liu, Q.; Zhao, J.; Wang, Z.-x.; Zhang, W.; Yuan, Y. 2013: Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type Ii Zhonghua Yi Xue Za Zhi 93(25): 1981-1985
Wang, Y.; Wang, X.; Peng, J.; Chen, L.; Cheng, J.; Nie, S.; Feng, T.; Zhao, G.; Zhao, J.; Shi, X. 2008: Short communication: SDF1-3'A gene mutation is correlated with increased susceptibility to HIV type 1 infection by sexual transmission in Han Chinese Aids Research and Human Retroviruses 24(11): 1341-1345
Xu, B.; Pang, T.; Yao, C.-q.; Zhang, L.-y.; Zheng, H.; Jiang, W.-y.; Li, H.-y. 2012: Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family Zhonghua Yi Xue Za Zhi 92(4): 254-258
Takarada, Y.; Yamashita, K.; Ohtsuka, N.; Kagawa, S.; Matsuoka, A. 1993: Novel mutation in exon 7 of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria Clinical Chemistry 39(11 Part 1): 2357
Sheng, H.-z.; Shan, Q.-j.; Wu, X.; Cao, K.-j. 2008: Cardiac troponin i gene mutation (Asp127Tyr) in a Chinese patient with hypertrophic cardiomyopathy Zhonghua Xin Xue Guan Bing Za Zhi 36(12): 1063-1065
Yang, H.-p.; Zhang, Y.-z.; Ding, J.; Jiao, H.; Lü, J.-l.; Xiong, H. 2012: Clinical and mutation analyses of a Chinese family with Bethlem myopathy Zhonghua Yi Xue Za Zhi 92(40): 2820-2824
Ke, Q.; Xu, Q.-g.; Huang, D.-h.; Yuan, H.-j.; Zhao, Y.-l.; Wu, W.-p. 2006: The mutation R672H in SCN4A gene exists in Chinese patients with hypokalaemic periodic paralysis Zhonghua Yi Xue Za Zhi 86(11): 724-727
Keller, D.I.; Barrane, F-Zahara.; Gouas, L.; Martin, J.; Pilote, S.; Suarez, V.; Osswald, S.; Brink, M.; Guicheney, P.; Schwick, N.; Chahine, M. 2005: A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state Canadian Journal of Cardiology 21(11): 925-931
Lee, W.J.; Lee, H.M.; Chi, C.S.; Yang, M.T.; Lin, H.Y.; Lin, W.H. 1995: Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family Zhonghua Yi Xue Za Zhi 56(6): 359-366
Tao, Q.; Yang, J.-H.; Zheng, D.-D. 2007: Novel Val606Met mutation in beta myosin heavy chain gene in Chinese pedigrees with familiar hypertrophic cardiomyopathy Zhonghua Xin Xue Guan Bing Za Zhi 35(11): 992-995
Hui, S.P. 1997: Frequency and effect on plasma lipoprotein metabolism of a mutation in the cholesteryl ester transfer protein gene in the Chinese Hokkaido Journal of Medical Science 72(3): 319-327
Yang, Y.; Fan, D. 2014: To screen for SQSTM1/p62 gene in Chinese patients with familial amyotrophic lateral sclerosis carrying superoxide dismutase 1 mutation Zhonghua Nei Ke Za Zhi 53(12): 957-960
Li, M.; Cheng, K.; Wang, Q.-B.; Zhu, W.-Q.; Qin, S.-M.; Cui, J.; Shu, X.-H.; Chen, R.-Z.; Ge, J.-B.; Chen, H.-Z. 2009: Link between cardiac myosin binding protein-C gene mutation of Pro1208fs and Gly507 Arg and hypertrophic cardiomyopathy in Chinese patients Zhonghua Xin Xue Guan Bing Za Zhi 37(9): 790-793
Elçioglu, N.H.; Pawlik, B.; Colak, B.; Beck, M.; Wollnik, B. 2009: A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D Genetic Counseling 20(2): 133-139
Yuan, J.-s.; Qiao, S.-b.; Wang, S.-x.; Teng, S.-y.; You, S.-j.; Yang, W.-x.; Gao, R.-l.; Chen, J.-l.; Yang, Y.-j. 2008: The Val606Met mutation of human beta myosin heavy chain in a Chinese familial hypertrophic cardiomyopathy family Zhonghua Xin Xue Guan Bing Za Zhi 36(4): 313-316
Kalinin, V.N.; Schmidt, W.; Poller, W.; Olek, K. 1995: A new point mutation in the mitochondrial gene ND1, detected in a patient with type Ii diabetes Genetika 31(8): 1180-1182
Cierniková, S.; Tomka, M.; Sedláková, O.; Reinerová, M.; Stevurková, V.; Kovác, M.; Cente, M.; Ilenciková, D.; Bella, V.; Zajac, V. 2003: The novel exon 11 mutation of BRCA1 gene in a high-risk family Neoplasma 50(6): 403-407
Li, Z.; Zhang, L-jun.; Wang, W-ping.; Guo, K.; Shao, J-yong.; Rong, T-hua. 2011: Correlation between EGFR gene mutation and high copy number and their association with the clinicopathological features in Chinese patients with non-small cell lung cancer Zhonghua Zhong Liu Za Zhi 33(9): 666-670