| Detection of a new mutation (1467-A) for the pedigree withmucopolysaccharidosis type Ⅱ from a Chinese family |
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| 作者姓名： | GUO Yibin PAN Jingxin & DU Chuanshu . |
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| 作者单位： | GUO Yibin1，PAN Jingxin2 & DU Chuanshu1 1. Department of Medical Genetics，Preclinical Medical School，Sun Yat-sen University，Guangzhou 510080，China; 2. Department of Internal Medicine，the Second Affiliated Hospital，Fujian University of Medical Science，Quanzhou 362000，China |
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| 摘 要： | Mucopolysaccharidosis type II (MPS II) is a disabling, fatal monogenic disease caused by abnormal metabolism of the mucopolysaccharides1]. Gene mutation is the basic cause of MPS II and investigation of the IDS gene muta-tion is the premise for prenatal gene diagnosis and gene therapy. MPS II is worldwide distributed with high inci-dence and serious results. To study the IDS gene of Chi-nese MPS II patients is important not only in carrying out one-family policy but also in upraisi…
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