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粘多糖贮积症Ⅱ型七例报道 被引量:1

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出处 《中国优生与遗传杂志》 2006年第9期121-121,41,共2页 Chinese Journal of Birth Health & Heredity
基金 美国中华医学基金会(CMB)部分基金资助项目(2003) 横向课题(7102010)
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  • 1张春芽,李麓芸,刘上峰,傅俊江,卢光琇.粘多糖贮积症Ⅱ型患者IDS基因的一个新突变[J].中华医学遗传学杂志,2004,21(3):269-271. 被引量:10
  • 2Rathmann M, Bunge S, Beck M, et al. Mucopolysaccharidosis type Ⅱ(Hunter syndrome): Mutation "hot spots" in the iduronate-2-sulfatase gene. Am J Hum Genet, 1996, 59(6): 1202~1209.
  • 3Wraith J E, Cooper A, Thomley M, et al. The clinical phenotype of two patients with a complete deletion of the iduronate-2-sul- phatase gene (mucopolysaccharidosis Ⅱ-- Hunter syndrome). Hum Genet, 1991, 87(2): 205~206.
  • 4Li P, Bellows A B, Thompson J N. Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type Ⅱ(Hunter syndrome). J Med Genet, 1999, 36(1): 21~27.
  • 5Chou Y Y, Chao S C, Kuo P L, et al. A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome. J Formos Med Assoc, 2005, 104(4): 273~275.
  • 6Lualdi S, Regis S, Di Rocco M, et al. Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type Ⅱ revealed by a rapid PCR-based method. Hum Mutat, 2005, 25(5): 491~497.
  • 7Chang J H, Lin S P, Lin S C, et al. Expression studies of mutations underlying Taiwan Residents Hunter syndrome (mucopolysaccharidosis type Ⅱ). Hum Genet, 2005, 116(3): 160~166.
  • 8Machill G, Barbujani G, Danieli G A, et al. Segregation and sporadic cases in families with Hunter's syndrome. J Med Genet, 1991, 28(6): 398~401.
  • 9Hopwood J J, Bunge S, Morris C P, et al. Molecular basis of mucopolysaccharidosis type Ⅱ: Mutations in the iduronate-2-sul- phatase gene. Hum Mutat, 1993, 2(6): 435~442.
  • 10刘上峰,李麓芸,傅俊江,钟昌高,卢光琇.粘多糖贮积症Ⅱ型患者艾杜糖-2-硫酸酯酶基因常见突变的检测[J].中华医学遗传学杂志,2002,19(3):243-245. 被引量:8

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