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Pelizaeus-Merzbacher disease: Molecular diagnosis and therapy. 期刊论文

编号：

b5be1c77-0cfc-447e-a23c-5dfd0501941d
作者：

Xia Jufeng^[1] Wang Ling^[2]
地址：

[1]Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China;
[2]Laboratory for Reproductive Immunology, Hospital & Institute of Obstetrics and Gynecology, Fudan University Shanghai Medical College, Shanghai, China.
语种：

英文
期刊：

Intractable & rare diseases research ISSN：2186-3644 2013 年 2 卷 3 期 (103 - 105) ; 2013-Aug-
收录：
关键词：

PLP1 gene Pelizaeus-Merzbacher disease duplication iPS cell molecular diagnosis
摘要：

Chromosome Xq22.2 contains the entire proteolipid protein 1 gene (PLP1), and a genomic duplication in that chromosome is responsible for Pelizaeus-Merzbacher disease (PMD). Duplication can be detected using several molecular diagnostic methods such as comparative multiplex PCR, fluorescent in situ hybridization (FISH), restriction site polymorphism (RSP) analysis, and multiplex ligation-dependant probe amplification (MLPA). The characteristics of these methods should be taken into account when using them. There is currently no treatment for PMD, so a cure is urgently need. Advances in research on stem cell therapies, and especially induced pluripotent stem cell therapy, offer great promise for development of a treatment for PMD. ;
推荐引用方式
GB/T 7714：

Xia Jufeng,Wang Ling, et al. Pelizaeus-Merzbacher disease: Molecular diagnosis and therapy. [J].Intractable & rare diseases research,2013,2(3):103-105.
APA：

Xia Jufeng,Wang Ling.(2013).Pelizaeus-Merzbacher disease: Molecular diagnosis and therapy. .Intractable & rare diseases research,2(3):103-105.
MLA：

Xia Jufeng, et al. "Pelizaeus-Merzbacher disease: Molecular diagnosis and therapy." .Intractable & rare diseases research 2,3(2013):103-105.

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