haemochromatosisHFEElizabeth FaganKennedy-Galton Centre for Medical & Community Genetics, Northwick Park & St. Mark's NHS Trust, Watford Road, Harrow, Middlesex, HA1 3UJ, UKStewart J. PayneKennedy-Galton Centre for Medical & Community Genetics, Northwick Park & St. Mark's NHS Trust, Watfo...
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四数木(拉丁学名:Tetrameles nudiflora R. Br.)大乔木,高达50m,直径可达3.0m, 具大板根。本属仅1种,分布于东南亚及巴布亚新几内亚等地区。适用于旋切单板、胶合板、细木工制品、包装箱盒、火柴杆、模型、室内装修等。中文名称四数木 别称黄芸香木 目葫芦目 属四数木属 拉丁学名Tetrameles nudiflora R...
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Wu JY, Yang CF, Lee CC, et al: A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). Hum Mutat 2000;15:389-90.Wu JY, Yang CF, Lee CC, Chang JG, Tsai FJ (2000) A novel mutation (Q239R) identified in...
mucopolysaccharidosis type VI: MPS VIarylsulfatase B: AS BMucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome, is a autosomal recessive disorder, due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB: EC 3.1.6.12). Three classi...
Analysis of five mutations in 20 mucopolysac- charidosis type I patients: high prevalence of the W402X mutation. Hum Mutat 1998;11:332.L. Gort, A. Chabas, M.J. Coll, Analysis of five mutations in 20 mucopolysaccharidosis type 1 patients: high prevalence of the W402X mutation...
Bondenson, Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis type II) patients, Hum. Mutat. 12 (1998) 433.Karsten SL, Voskoboeva E, Carlberg BM, Kleijer WJ, Tsnnesen T, Pettersson U, Bondeson ML. 1998. Identification of 9 novel IDS...
Orii, Mucopolysaccharidosis type I: identification of common muta- tions that cause Hurler and Scheie syndromes in Japanese populations, Hum. Mutat. 7 (1996) 23-29.Yamagishi A,Tomatus S,Fukuda S,et al.Mucopolysaccharidosis type one: identification of common mutations that cause Hurler and ...
and Gal,A. (1997) Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). Hum. Mutat., 10, 479- 485.Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, et al. Identification of 16 sulf...