国家自然科学基金(J0710043)

作品数：2被引量：10H指数：2
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相关期刊：《International Journal of Ophthalmology(English edition)》《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》更多>>
相关主题：MUTATIONMITOCHONDRIAL_DNAINHIBITORYGENESMN更多>>
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Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation被引量：5
《International Journal of Ophthalmology(English edition)》2012年第1期28-31,共4页Lei Shu Yong-Ming Zhang Xiao-Xiao Huang Chun-Yue Chen Xian-Ning Zhang 
Supported by the National Natural Science Foundation of China(No.J0710043)
AIM: To investigate mitochondrial factors associated with Leber hereditary optic neuropathy (LHON) through complete sequencing and analysis of the mitochondrial genome of Chinese patients with this disease. METHODS: T...
关键词：Leber hereditary optic neuropathy mitochondrial DNA MUTATION mitochondrial respiratory complex I 
Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy被引量：5
《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》2009年第1期29-34,共6页Yu-hua LIANG Xiao-ling CHEN Zhong-sheng YU Chun-yue CHEN Sheng BI Lian-gen MAO Bo-lin ZHOU Xian-ning ZHANG 
Project supported by the National Natural Science Foundation of China (No. J0710043);the Natural Science Foundation of Zheji-ang Province (No. 2007C33049), China
Spinal muscular atrophy （SMA） is a disorder characterized by degeneration of lower motor neurons and occasionally bulbar motor neurons leading to progressive limb and trunk paralysis as well as muscular atrophy. Thr...
关键词：Spinal muscular atrophy （SMA） Survival motor neuron （SMN） gene Neuronal apoptosis inhibitory protein （NAIP） gene MUTATION 
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