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机构地区:[1]Institute of Genetics, Fudan University, Shanghai 200433, PRC
出 处:《Chinese Science Bulletin》1991年第11期967-968,共2页
基 金:Project supported by the National High Technology Development Program (863-102-18-49).
摘 要:Dystrophin is the first identified human huge protein by the approach of reverse genetics. The molecular weight of dystrophin is 430 kD. The protein exists mainly on the cell membrane of skeletal muscle, cardiac muscle, smooth muscle and brain. It is considered a cell skeleton protein. The dystrophin gene is located at Xp21 of X chromosome. It is reported that the total length of the dystrophin gene is approximately 2300 kb including a series of exons 14 kb in length. The Duchenne muscular dystrophy (DMD), which is lethal, and Becker muscular dystrophy (BMD), which is alleviative, are due to the abhor-
关 键 词:DYSTROPHIN DYSTROPHY MUSCULAR DUCHENNE Becker chromosome length genetics LETHAL SKELETAL
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