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簡(jiǎn)要描述：NSDHL is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene.
產(chǎn)品型號(hào)：bsm-62924R廠商性質(zhì)：生產(chǎn)廠家更新時(shí)間：2025-03-04訪 問(wèn) 量： 251產(chǎn)品分類
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