Article
[Genotype, phenotype analysis and follow-up study on patients with Duchenne/Becker muscular dystrophy].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Dec 2010
Zhang Yan-zhi, Xiong Hui, Wang Xiao-zhu, Wang Shuo, Luo Jing, Wang Jing-min, Jiang Yu-wu, Chang Xing-zhi, Pan Hong, Qi Jian-guang, Li Wan-zhen, Yuan Yun, Wu Xi-ru
Abstract excerpt
OBJECTIVE: To improve the diagnosis and management of Duchenne/Becker muscular dystrophy(DMD/BMD). METHODS: Clinical features of 90 cases of DMD/BMD were collected. Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes, and multiplex ligation-dependent probe amplification (MLPA) was applied to detect DMD gene to identify genetic mutation. For those patients whose...
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