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簡要描述： MBNL1 is a deduced 370 amino acid protein which is predominantly expressed in skeletal muscle, prostate, lung, heart, small intestine, ovary and placenta tissues. MBNL1 and MBNL2, which associate with ex-panded CUG repeats in vitro, both localize to the nuclear foci in both DM1 and DM2 (myotonic dystrophy types 1 and 2), suggesting that the nuclear accumulation of mutant RNA is pathogenic in DM1, therefore implicating MBNL1 and 2 in the pathogenesis of both disorders.
產品型號：bsm-62213R廠商性質：生產廠家更新時間：2025-03-03訪 問 量： 114詳細介紹
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