1例粘多糖贮积症Ⅱ型IDS基因的新发突变

Chinese Journal of Child Health Care ›› 2018, Vol. 26 ›› Issue (5) : 579-580.

PDF(892 KB)
PDF(892 KB)
Chinese Journal of Child Health Care ›› 2018, Vol. 26 ›› Issue (5) : 579-580. DOI: 10.11852/zgetbjzz2018-26-05-32

Author information +
History +

Cite this article

Download Citations

References

[1] Valayannopoulos V, Wijburg FA. Therapy for the mucopolysaccharidoses [J].Rheumatology (Oxford) , 2011,50 Suppl 5(12) : v49-v59.
[2] 郭奕斌,杜传书. 中国广东Hunter 综合征患者的T1140C新突变[J]. 遗传,2006,28(5):521-524.
[3] Scarpa M, Almássy Z, Beck M,et al. Mucopolysaccharidosis type Ⅱ: European recommendations for the diagnosis and multidisciplinary management of a rare disease[J]. Orphanet J Rare Dis, 2011,6(1):1-18.
[4] Lualdi S, Regis S, Rocco MD, et al. Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with mucopolysaccharidosis typeⅡ revealed by a rapid PCR-based method[J]. Hum Mutat, 2005, 25(5): 491-497.
[5] Bondeson ML, Malmgren H, Dahl N, et al. Presence of an IDS related locus ( IDS2 ) in Xq28 complicates the mutational analysis of Hunter syndrome[J]. Eur J Hum Genet, 1995, 3(4):219-227.
[6] Timms KM, Lu F, Shen Y, et al. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus[J]. Genome Res, 1995, 5(1):71-78.
[7] Rathmann M, Bunge S, Beck M, et al. Mucopolysaccharidosis typeⅡ (Hunter syndrome): mutation “hot spots” in the iduronate-2-sulfatase gene[J]. Am J Hum Genet, 1996, 59(6) : 1202-1209.
[8] 刘宁,孔祥东,吴庆华,等.八个黏多糖贮积症Ⅱ型家系IDS基因变异分析与产前诊断[J].中华围产医学杂志,2017,20(4):290-294.
[9] 王伟.黏多糖贮积症Ⅱ型[M]//陈静.可治性罕见病.上海:上海交通大学出版社,2017:91-101.
PDF(892 KB)

Accesses

Citation

Detail

Sections
Recommended

/